{"id":2455,"date":"2022-09-24T13:11:28","date_gmt":"2022-09-24T13:11:28","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2455"},"modified":"2026-08-12T09:07:25","modified_gmt":"2026-08-12T09:07:25","slug":"str-short-tandem-repeat-disorders","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/str-short-tandem-repeat-disorders\/","title":{"rendered":"TR (tandem repeat) disorders."},"content":{"rendered":"\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"750\" height=\"512\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-76.png\" alt=\"\" class=\"wp-image-2458\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-76.png 750w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-76-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-76-18x12.png 18w\" sizes=\"(max-width: 750px) 100vw, 750px\" \/><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">1. Clasificaci\u00f3n por tama\u00f1o de unidad<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>STR (microsat\u00e9lites):<\/strong> 1-6 pb \u2192 grueso de patolog\u00eda neurol\u00f3gica<\/li>\n\n\n\n<li><strong>VNTR (sentido amplio):<\/strong> n\u00famero variable de copias, unidad mayor<\/li>\n\n\n\n<li><em>Minisat\u00e9lites cl\u00e1sicos:<\/em> 10-60 pb (INS, MUC1)<\/li>\n\n\n\n<li><em>Macrosat\u00e9lites:<\/em> miles de pb \u2014 mismo principio (n\u00ba variable de copias), unidad much\u00edsimo mayor (FSHD\/D4Z4)<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"809\" height=\"497\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-53.png\" alt=\"\" class=\"wp-image-8511\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-53.png 809w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-53-300x184.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-53-768x472.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-53-18x12.png 18w\" sizes=\"(max-width: 809px) 100vw, 809px\" \/><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">2. Por qu\u00e9 son inestables (mecanismo com\u00fan)<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Deslizamiento de la ADN polimerasa durante replicaci\u00f3n<\/li>\n\n\n\n<li>Hebra naciente se disocia y reasocia en registro desplazado \u2192 bucle<\/li>\n\n\n\n<li>Bucle en hebra naciente \u2192 <strong>expansi\u00f3n<\/strong><\/li>\n\n\n\n<li>Bucle en hebra molde \u2192 <strong>contracci\u00f3n<\/strong><\/li>\n\n\n\n<li>A mayor longitud previa, mayor probabilidad de bucle \u2192 inestabilidad no lineal tras umbral cr\u00edtico (normal \u2192 premutaci\u00f3n \u2192 mutaci\u00f3n completa)<\/li>\n<\/ul>\n\n\n\n<p><strong>Consecuencia cl\u00ednica:<\/strong> anticipaci\u00f3n gen\u00e9tica = manifestaci\u00f3n fenot\u00edpica de esta inestabilidad mei\u00f3tica creciente (sesgo paterno o materno seg\u00fan la enfermedad).<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">3. Tres mecanismos seg\u00fan localizaci\u00f3n de la repetici\u00f3n (bloque STR)<\/h3>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"750\" height=\"554\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-75.png\" alt=\"\" class=\"wp-image-2457\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-75.png 750w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-75-300x222.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/imagen-75-16x12.png 16w\" sizes=\"(max-width: 750px) 100vw, 750px\" \/><\/figure>\n\n\n\n<p><strong>A) Ex\u00f3n codificante, tripletes (CAG=poliQ)<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Prote\u00edna an\u00f3mala con tracto de poliglutamina<\/li>\n\n\n\n<li>Mal plegamiento \u2192 agregaci\u00f3n intranuclear<\/li>\n\n\n\n<li><strong>Ganancia de funci\u00f3n t\u00f3xica<\/strong>, dominante<\/li>\n\n\n\n<li>Ej.: Huntington, SCAs, Kennedy (ligada a X)<\/li>\n<\/ul>\n\n\n\n<p><strong>B) Regi\u00f3n no codificante (UTR, intr\u00f3n), gran expansi\u00f3n<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>Silenciamiento epigen\u00e9tico<\/em> \u2192 hipermetilaci\u00f3n \u2192 p\u00e9rdida de funci\u00f3n (X fr\u00e1gil, Friedreich)<\/li>\n\n\n\n<li><em>Toxicidad de ARN<\/em> \u2192 secuestro de prote\u00ednas de splicing por ARN mensajero con repetici\u00f3n expandida (miot\u00f3nica, C9orf72)<\/li>\n<\/ul>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-87024e0c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Enfermedades neurol\u00f3gicas causadas por STR.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-table\"><table><thead><tr><th>Abbreviated phenotype (MIM number)<\/th><th>Gene<\/th><th>Mode of inheritance<\/th><th>Repeat Motif<\/th><th>Location on Gene<\/th><th>Pathogenic repeat number<sup>a<\/sup><\/th><th>Chromosome<\/th><th>Coordinates&nbsp;(hg38)<\/th><th>Clinical phenotype<\/th><th>References<\/th><\/tr><\/thead><tbody><tr><td>C9-FTD<br>C9-ALS<br>(#10550)<\/td><td><em>C9orf72<\/em><\/td><td>AD<\/td><td>GGGGCC<\/td><td>5\u2019 Region<\/td><td>24\u20134000<\/td><td>chr9<\/td><td>27573485<\/td><td>27573546<\/td><td>Frontotemporal dementia, amyotrophic lateral sclerosis<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR32\">32<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR47\">47<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR65\">65<\/a>]<\/td><\/tr><tr><td>CANVAS<br>(#614575)<\/td><td><em>RFC1<\/em><\/td><td>AR<\/td><td>(AAGGG)<sub>400\u20132000<\/sub><br>(ACAGG)<sub>exp<\/sub><br>AAAAG&nbsp;(normal)<\/td><td>Intron 2<\/td><td>400\u20132000<\/td><td>chr4<\/td><td>39348425<\/td><td>39348483<\/td><td>Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR11\">11<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR28\">28<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR138\">138<\/a>]<\/td><\/tr><tr><td>DM1<br>(#160900)<\/td><td><em>DMPK<\/em><\/td><td>AD<\/td><td>CTG<br>(Interruptions: CCG)<\/td><td>3\u2019 Region<\/td><td>50\u201310,000<\/td><td>chr19<\/td><td>45770205<\/td><td>45770266<\/td><td>Myotonic dystrophy 1<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR60\">60<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR176\">176<\/a>]<\/td><\/tr><tr><td>DM2<br>(#602668)<\/td><td><em>CNBP<\/em> (<em>ZNF9<\/em>)<\/td><td>AD<\/td><td>CCTG<\/td><td>Intron 1<\/td><td>50\u201311,000<\/td><td>chr3<\/td><td>129172577<\/td><td>129172656<\/td><td>Myotonic dystrophy 2<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR176\">176<\/a>]<\/td><\/tr><tr><td>DRPLA<br>(#125370)<\/td><td><em>ATN1<\/em><\/td><td>AD<\/td><td>CAG<\/td><td>Exon 5<\/td><td>49\u201393<\/td><td>chr12<\/td><td>6936717<\/td><td>6936775<\/td><td>Dentatorubral-pallidoluysian atrophy<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR78\">78<\/a>]<\/td><\/tr><tr><td>EIEE1\/XLID<br>(#308350)<br>(#300419)<br>(#300215)<\/td><td><em>ARX<\/em><\/td><td>XL<\/td><td>GCC<\/td><td>Exon 2<\/td><td>17\u201327<\/td><td>chrX<\/td><td>25013654<\/td><td>25013697<\/td><td>Clinical spectrum of disorders including developmental and epileptic encephalopathy 1, hydranencephaly with abnormal genitalia, X-linked lissencephaly 2 and X-linked mental retardation 29<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR73\">73<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR150\">150<\/a>]<\/td><\/tr><tr><td>FAME1 (#601068)<\/td><td><em>SAMD12<\/em><\/td><td>AD<\/td><td>TTTCA<br>within TTTTA repeat region<\/td><td>Intron 4<\/td><td>105\u20133680<\/td><td>chr8<\/td><td>118366813<\/td><td>118366918<\/td><td>Familial adult myoclonic epilepsy 1<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR22\">22<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR68\">68<\/a>]<\/td><\/tr><tr><td>FAME2<br>(#607876)<\/td><td><em>STARD7<\/em><\/td><td>AD<\/td><td>ATTTC<br>within ATTTT repeat region<\/td><td>Intron 1<\/td><td>150\u2013460<\/td><td>chr2<\/td><td>96197067<\/td><td>96197124<\/td><td>Familial adult myoclonic epilepsy 2<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR27\">27<\/a>]<\/td><\/tr><tr><td>FAME3<br>(#613608)<\/td><td><em>MARCHF6<\/em><\/td><td>AD<\/td><td>TTTCA<br>within TTTTA repeat region<\/td><td>Intron 1<\/td><td>700\u20131035<\/td><td>chr5<\/td><td>10356339<\/td><td>10356411<\/td><td>Familial adult myoclonic epilepsy 3<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR40\">40<\/a>]<\/td><\/tr><tr><td>FAME6<br>(#618074)<\/td><td><em>TNRC6A<\/em><\/td><td>AD<\/td><td>TTTCA<br>within TTTTA repeat region<\/td><td>Intron 1<\/td><td>?<br>(only 1 family)<\/td><td>chr16<\/td><td>24613439<\/td><td>24613532<\/td><td>Familial adult myoclonic epilepsy 6<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR68\">68<\/a>]<\/td><\/tr><tr><td>FAME7<br>(#618075)<\/td><td><em>RAPGEF2<\/em><\/td><td>AD<\/td><td>TTTCA<br>within TTTTA repeat region<\/td><td>Intron 14<\/td><td>?<br>(only 1 family)<\/td><td>chr4<\/td><td>159342527<\/td><td>159342618<\/td><td>Familial adult myoclonic epilepsy 7<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR68\">68<\/a>]<\/td><\/tr><tr><td>FRAXE<br>(#309548)<\/td><td><em>FMR2<\/em> (<em>AFF2<\/em>)<\/td><td>XLR<\/td><td>CCG<\/td><td>5\u2019 Region<\/td><td>\u2009&gt;\u2009200<\/td><td>chrX<\/td><td>148500605<\/td><td>148500753<\/td><td>Mental retardation, X-linked, FRAXE type<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR53\">53<\/a>]<\/td><\/tr><tr><td>FRDA<br>(#229300)<\/td><td><em>FXN<\/em><\/td><td>AR<\/td><td>GAA<\/td><td>Intron 1<\/td><td>66\u20131300<\/td><td>chr9<\/td><td>69037275<\/td><td>69037314<\/td><td>Friedreich ataxia<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR5\">5<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR19\">19<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR162\">162<\/a>]<\/td><\/tr><tr><td>FXS<br>(#300624)<br>FXTAS<br>(#300623)<\/td><td><em>FMR1<\/em><\/td><td>XL<\/td><td>CGG<\/td><td>5\u2019 Region<\/td><td>200\u20133000<br>55\u2013200<\/td><td>chrX<\/td><td>147911979<\/td><td>147912111<\/td><td>Fragile X syndrome<br>Fragile X tremor\/ataxia syndrome, premature ovarian failure 1<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR162\">162<\/a>]<br>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR56\">56<\/a>]<\/td><\/tr><tr><td>HD<br>(#143100)<\/td><td><em>HTT<\/em><\/td><td>AD<\/td><td>CAG<br>(Interruptions: CAA)<\/td><td>Exon 1<\/td><td>36\u2013250<\/td><td>chr4<\/td><td>3074876<\/td><td>3074941<\/td><td>Huntington disease<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR96\">96<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR101\">101<\/a>]<\/td><\/tr><tr><td>HDL1<br>(#603218)<\/td><td><em>PRNP<\/em><\/td><td>AD<\/td><td>24-base<br>octapeptide PHGGGWGQ<\/td><td>Exon 2<\/td><td>8\u201314<\/td><td>chr20<\/td><td>4699379<\/td><td>4699380<\/td><td>Huntington disease-like 1<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR108\">108<\/a>]<\/td><\/tr><tr><td>HDL2<br>(#606438)<\/td><td><em>JPH3<\/em><\/td><td>AD<\/td><td>CTG<\/td><td>Exon 2A<\/td><td>40\u201359<\/td><td>chr16<\/td><td>87604283<\/td><td>87604329<\/td><td>Huntington disease-like 2<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR62\">62<\/a>]<\/td><\/tr><tr><td>HMN<\/td><td><em>VWA1<\/em><\/td><td>AR<\/td><td>GGCGCGGAGC<\/td><td>Exon 1<\/td><td>3<\/td><td>chr1<\/td><td>1435799<\/td><td>1435820<\/td><td>Hereditary axonal motor neuropathy<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR121\">121<\/a>]<\/td><\/tr><tr><td>NIID<br>(#603472)<\/td><td><em>NOTCH2NLC<\/em><\/td><td>AD<\/td><td>CGG<\/td><td>5&#8242; Region<\/td><td>66\u2013517<\/td><td>chr1<\/td><td>149390803<\/td><td>149390842<\/td><td>Neuronal intranuclear inclusion disease<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR55\">55<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR118\">118<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR146\">146<\/a>]<\/td><\/tr><tr><td>OPDM1<br>(#164310)<\/td><td><em>LRP12<\/em><\/td><td>AD<\/td><td>CGG<\/td><td>5&#8242; Region<\/td><td>90\u2013130<\/td><td>chr8<\/td><td>104588965<\/td><td>104588999<\/td><td>Oculopharyngodistal myopathy<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR69\">69<\/a>]<\/td><\/tr><tr><td>OPDM2<br>(#618940)<\/td><td><em>GIPC1<\/em><\/td><td>AD<\/td><td>CGG<\/td><td>5\u2019 Region<\/td><td>70\u2013164<\/td><td>chr19<\/td><td>14496029<\/td><td>14496104<\/td><td>Oculopharyngodistal myopathy<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR172\">172<\/a>]<\/td><\/tr><tr><td>OPMD<br>(#164300)<\/td><td><em>PABPN1<\/em><\/td><td>AD<\/td><td>GCG<\/td><td>Exon 1<\/td><td>7\u201318<\/td><td>chr14<\/td><td>23321472<\/td><td>23321511<\/td><td>Oculopharyngeal muscular dystrophy<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR15\">15<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR129\">129<\/a>]<\/td><\/tr><tr><td>OPML1<br>(#618637)<\/td><td><em>NUTM2B-AS1<\/em><\/td><td>AD<\/td><td>CGG<\/td><td>5&#8242; Region<\/td><td>16\u2013160<\/td><td>chr10<\/td><td>79826364<\/td><td>79826403<\/td><td>Oculopharyngeal myopathy with leukoencephalopathy 1<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR69\">69<\/a>]<\/td><\/tr><tr><td>SBMA<br>(#313200)<\/td><td><em>AR<\/em><\/td><td>XLR<\/td><td>CAG<\/td><td>Exon 1<\/td><td>38\u201368<\/td><td>chrX<\/td><td>67545317<\/td><td>67545419<\/td><td>Spinal and bulbar muscular atrophy of Kennedy (Kennedy&#8217;s disease)<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR44\">44<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR82\">82<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR147\">147<\/a>]<\/td><\/tr><tr><td>SCA1<br>(#164400)<\/td><td><em>ATXN1<\/em><\/td><td>AD<\/td><td>CAG<br>(Interruptions:&nbsp;CAT)<\/td><td>Exon 8<\/td><td>39\u201391<\/td><td>chr6<\/td><td>16327636<\/td><td>16327723<\/td><td>Spinocerebellar ataxia 1<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR120\">120<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR141\">141<\/a>]<\/td><\/tr><tr><td>SCA2<br>(#183090)<\/td><td><em>ATXN2<\/em><\/td><td>AD<\/td><td>CAG<br>(Interruptions:&nbsp;CAA, CGG, CGC)<\/td><td>Exon 1<\/td><td>33\u2013200<br>(29\u201332<br>increased ALS risk)<\/td><td>chr12<\/td><td>111598950<\/td><td>111599019<\/td><td>Spinocerebellar ataxia 2<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR18\">18<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR133\">133<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR141\">141<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR148\">148<\/a>]<\/td><\/tr><tr><td>SCA3<br>(#109150)<\/td><td><em>ATXN3<\/em><\/td><td>AD<\/td><td>CAG<\/td><td>Exon 10<\/td><td>53\u201387<\/td><td>chr14<\/td><td>92071011<\/td><td>92071052<\/td><td>Spinocerebellar ataxia 3<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR74\">74<\/a>]<\/td><\/tr><tr><td>SCA6<br>(183086)<\/td><td><em>CACNA1A<\/em><\/td><td>AD<\/td><td>CAG<\/td><td>Exon 47<\/td><td>19\u201333<\/td><td>chr19<\/td><td>13207858<\/td><td>13207897<\/td><td>Spinocerebellar ataxia 6<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR141\">141<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR181\">181<\/a>]<\/td><\/tr><tr><td>SCA7<br>(#164500)<\/td><td><em>ATXN7<\/em><\/td><td>AD<\/td><td>CAG<\/td><td>Exon 1<\/td><td>34\u2013460<\/td><td>chr3<\/td><td>63912685<\/td><td>63912716<\/td><td>Spinocerebellar ataxia 7<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR18\">18<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR30\">30<\/a>]<\/td><\/tr><tr><td>SCA8<br>(#608768)<\/td><td><em>ATXN8<\/em><\/td><td>AD<\/td><td>CAG\/TAG<\/td><td>3\u2019 UTR<\/td><td>74\u20131300<\/td><td>chr13<\/td><td>70139383<\/td><td>70139428<\/td><td>Spinocerebellar ataxia 8<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR79\">79<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR141\">141<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR155\">155<\/a>]<\/td><\/tr><tr><td>SCA10<br>(#603516)<\/td><td><em>ATXN10<\/em><\/td><td>AD<\/td><td>ATTCT<br>(Interruptions: ATCCT)<\/td><td>Intron 9<\/td><td>280\u20134500<\/td><td>chr22<\/td><td>45795355<\/td><td>45795424<\/td><td>Spinocerebellar ataxia 10<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR88\">88<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR100\">100<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR141\">141<\/a>]<\/td><\/tr><tr><td>SCA12<br>(#604326)<\/td><td><em>PPP2R2B<\/em><\/td><td>AD<\/td><td>CAG<\/td><td>5\u2019 Region<\/td><td>51\u201378<\/td><td>chr5<\/td><td>146878729<\/td><td>146878758<\/td><td>Spinocerebellar ataxia 12<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR63\">63<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR94\">94<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR141\">141<\/a>]<\/td><\/tr><tr><td>SCA17<br>(#607136)<\/td><td><em>TBP<\/em><\/td><td>AD<\/td><td>CAG<br>(Interruptions:&nbsp;CAT,&nbsp;CAA)<\/td><td>Exon 3<\/td><td>43\u201366<\/td><td>chr6<\/td><td>170561907<\/td><td>170562017<\/td><td>Spinocerebellar ataxia 17, Huntington disease-like 4<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR97\">97<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR115\">115<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR141\">141<\/a>]<\/td><\/tr><tr><td>SCA31<br>(#117210)<\/td><td><em>BEAN1<\/em><\/td><td>AD<\/td><td>TGGAA<br>within TAAAA and TAGAA repeat region<\/td><td>Intron\/<br>Intergenic region<\/td><td>500\u2013760<br>(&gt;\u2009110 TGGAA repeats)<\/td><td>chr16<\/td><td>66495475<\/td><td>66495509<\/td><td>Spinocerebellar ataxia 31<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR134\">134<\/a>]<\/td><\/tr><tr><td>SCA36<br>(#614153)<\/td><td><em>NOP56<\/em><\/td><td>AD<\/td><td>GGCCTG<\/td><td>Intron 1<\/td><td>650\u20132500<\/td><td>chr20<\/td><td>2652733<\/td><td>2652775<\/td><td>Spinocerebellar ataxia 36<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR77\">77<\/a>]<\/td><\/tr><tr><td>SCA37<br>(#615945)<\/td><td><em>DAB1<\/em><\/td><td>AD<\/td><td>ATTTC<br>within (ATTTT)<sub>7\u2013400<\/sub> repeat region<\/td><td>5\u2019 Region<\/td><td>31\u201375<\/td><td>chr1<\/td><td>57367044<\/td><td>57367125<\/td><td>Spinocerebellar ataxia 37<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR139\">139<\/a>]<\/td><\/tr><tr><td>ULD<br>(#254800)<\/td><td><em>CSTB<\/em><\/td><td>AR<\/td><td>CCCCGCCCCGCG<\/td><td>Upstream<br>5\u2019 UTR<\/td><td>30\u2013125<\/td><td>chr21<\/td><td>43776444<\/td><td>43776479<\/td><td>Progressive myoclonic epilepsy 1A (Unverricht and Lundborg disease)<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR87\">87<\/a>, <a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR91\">91<\/a>]<\/td><\/tr><\/tbody><\/table><figcaption class=\"wp-element-caption\">ALS, amyotrophic lateral sclerosis; AS, antisense RNA;&nbsp;CANVAS, cerebellar ataxia neuropathy and vestibular areflexia syndrome; DM1; myotonic dystrophy 1; DM2; myotonic dystrophy 2; DRPLA, dentatorubral-pallidoluysian atrophy; EIEE1, early infantile epileptic encephalopathy 1; FAME, familial adult myoclonic epilepsy; FRAXE, fragile-XE syndrome; FRDA, Friedreich\u2019s ataxia; FTD, frontotemporal dementia; FXS, fragile-X syndrome; FXTAS, fragile-x tremor\/ataxia syndrome; HMN, hereditary motor neuropathy; HD, Huntington\u2019s disease; HDL2, Huntington disease-like 2; HDL1, Huntington disease-like 1; LMN, lower motor neuron; NIID, neuronal intranuclear inclusion disease; OPDM, oculopharyngodistal myopathy; OPMD, oculopharyngeal muscular dystrophy; OPML, oculopharyngeal myopathy with leukoencephalopathy; SBMA, spinal and bulbar muscular atrophy; SCA, spinocerebellar ataxia; ULD, Unverricht-Lundborg disease; UMN, upper motor neuron; XLID, x-linked intellectual disability;<br><sup>a<\/sup>These ranges vary between studies and often the upper limit is unknown. It is important to note that these are only potentially pathogenic. There is a small (&lt;\u20091%) subsection of the healthy control population who have expanded alleles with no clinical manifestations. Similarly, there are alleles lower than the given range who may have intermediate alleles and premutation syndromes<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Enfermedades cong\u00e9nitas y del desarrollo causadas por STR.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-table\"><table><thead><tr><th>Phenotype (OMIM #)<\/th><th>Gene<\/th><th>Motif<\/th><th>Pathogenic repeat number<\/th><th>Location<\/th><th>(hg38)<\/th><th>References<\/th><\/tr><\/thead><tbody><tr><td>BPES<br>(#110100)<\/td><td><em>FOXL2<\/em><\/td><td>GCG<\/td><td>22\u201324<\/td><td>Exon<\/td><td>chr3<\/td><td>138946022<\/td><td>138946062<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR116\">116<\/a>]<\/td><\/tr><tr><td>CCHS<br>(#209880)<\/td><td><em>PHOX2B<\/em><\/td><td>GCG<\/td><td>24\u201333<\/td><td>Exon<\/td><td>chr4<\/td><td>41745976<\/td><td>41746022<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR7\">7<\/a>]<\/td><\/tr><tr><td>DBQD2<br>(#615777)<\/td><td><em>XYLT1<\/em><\/td><td>GGC<\/td><td>100\u2013800<\/td><td>5\u2019 Region<\/td><td>chr16<\/td><td>17470869<\/td><td>17470967<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR86\">86<\/a>]<\/td><\/tr><tr><td>FECD3<br>(#613267)<\/td><td><em>TCF4<\/em><\/td><td>TGC<\/td><td>\u2009&gt;\u200950<\/td><td>Intron<\/td><td>chr18<sup>a<\/sup><\/td><td>55222184<sup>a<\/sup><\/td><td>55635956<sup>a<\/sup><\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR167\">167<\/a>]<\/td><\/tr><tr><td>GDPAG<br>(#618412)<\/td><td><em>GLS<\/em><\/td><td>GCA<\/td><td>\u2009&gt;\u2009300<\/td><td>5\u2019 Region<\/td><td>chr2<\/td><td>190880873<\/td><td>190880920<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR159\">159<\/a>]<\/td><\/tr><tr><td>HFG<br>(#140000)<\/td><td><em>HOXA13<\/em><\/td><td>GCG<\/td><td>24\u201326<\/td><td>Exon<\/td><td>chr7<\/td><td>27199827<\/td><td>27199967<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR50\">50<\/a>]<\/td><\/tr><tr><td>HPE5<br>(#609637)<\/td><td><em>ZIC2<\/em><\/td><td>GCG<\/td><td>25<\/td><td>Exon<\/td><td>chr13<\/td><td>99985449<\/td><td>99985494<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR17\">17<\/a>]<\/td><\/tr><tr><td>HSAN8<br>(#616488)<\/td><td><em>PRDM12<\/em><\/td><td>GCG<\/td><td>18\u201319<\/td><td>Exon<\/td><td>chr9<\/td><td>130681606<\/td><td>130681641<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR23\">23<\/a>]<\/td><\/tr><tr><td>SPD1<br>(#186000)<\/td><td><em>HOXD13<\/em><\/td><td>GCG<\/td><td>22\u201329<\/td><td>Exon<\/td><td>chr2<\/td><td>176093058<\/td><td>176093099<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR2\">2<\/a>]<\/td><\/tr><tr><td>XLMR<br>(#300123)<\/td><td><em>SOX3<\/em><\/td><td>GCG<\/td><td>15\u201326<\/td><td>Exon<\/td><td>chr3<\/td><td>181712415<\/td><td>181712456<\/td><td>[<a href=\"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-021-01201-x#ref-CR89\">89<\/a>]<\/td><\/tr><\/tbody><\/table><figcaption class=\"wp-element-caption\">BPES, blepharophimosis, epicanthus inversus, and ptosis; CCHS, congenital central hypoventilation syndrome; DBQD2, Desbuquois dysplasia 2; FECD3, Fuchs endothelial corneal dystrophy 3; GDPAG, global developmental delay, progressive ataxia, and elevated glutamine; HFG, hand-foot-genital syndrome; HPE5, holoprosencephaly 5; SPD1, synpolydactyly 1; XLMR, x-linked mental retardation<br><sup>a<\/sup>Location of entire gene listed<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading\">4. Bloque VNTR (sentido amplio)<\/h3>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-52-1024x576.png\" alt=\"\" class=\"wp-image-8510\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-52-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-52-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-52-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-52-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/09\/image-52.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p><strong>Minisat\u00e9lites cl\u00e1sicos<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Variaci\u00f3n de n\u00famero de copias sin umbral patog\u00e9nico brusco<\/li>\n\n\n\n<li>Modulan riesgo polig\u00e9nico (INS \u2192 diabetes tipo 1) o causan enfermedad estructural (MUC1 \u2192 ADTKD)<\/li>\n\n\n\n<li>Base hist\u00f3rica del \u00abDNA fingerprinting\u00bb forense<\/li>\n<\/ul>\n\n\n\n<p><strong>Macrosat\u00e9lites <\/strong><\/p>\n\n\n\n<p><strong>\u2014 FSHD como caso paradigm\u00e1tico<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>D4Z4 (subtel\u00f3mero 4q35): unidad de 3.3 kb<\/li>\n\n\n\n<li>Normal: 11-100 copias \/ Patol\u00f3gico: \u226410 copias (<strong>FSHD1<\/strong>) \u2014 <strong>contracci\u00f3n<\/strong>, no expansi\u00f3n<\/li>\n\n\n\n<li>Contracci\u00f3n abre cromatina \u2192 desrepresi\u00f3n de <em>DUX4<\/em> (normalmente silenciado en m\u00fasculo adulto) \u2192 toxicidad<\/li>\n\n\n\n<li>Requiere haplotipo permisivo 4qA (misma contracci\u00f3n en 4qB no causa enfermedad)<\/li>\n\n\n\n<li><strong>FSHD2<\/strong>: array normal, pero mutaci\u00f3n en <em>SMCHD1<\/em> \u2192 mismo resultado (desrepresi\u00f3n de DUX4) por v\u00eda trans, no por contracci\u00f3n cis<\/li>\n\n\n\n<li>No sigue anticipaci\u00f3n gen\u00e9tica cl\u00e1sica (mecanismo epigen\u00e9tico, no carrera de repeticiones)<\/li>\n\n\n\n<li>S\u00ed, hay un grupo peque\u00f1o pero importante de enfermedades que comparten con FSHD el mecanismo \u00abat\u00edpico\u00bb (repetici\u00f3n grande, no microsat\u00e9lite cl\u00e1sico, y\/o mecanismo epigen\u00e9tico en vez de toxicidad directa). Las m\u00e1s relevantes para tu esquema:<\/li>\n<\/ul>\n\n\n\n<p><strong>&#8212;- S\u00edndrome ICF (Inmunodeficiencia, Inestabilidad Centrom\u00e9rica, anomal\u00edas Faciales)<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Afecta repeticiones sat\u00e9lite 2 y 3 (secuencias pericentrom\u00e9ricas, no D4Z4, pero mismo principio de macrosat\u00e9lite\/heterocromatina repetitiva)<\/li>\n\n\n\n<li>Mecanismo: mutaciones en <em>DNMT3B<\/em> (o <em>ZBTB24<\/em>, <em>CDCA7<\/em>, <em>HELLS<\/em>) \u2192 <strong>hipometilaci\u00f3n<\/strong> de estas regiones repetidas \u2192 descondensaci\u00f3n pericentrom\u00e9rica \u2192 inestabilidad cromos\u00f3mica<\/li>\n\n\n\n<li>Es pr\u00e1cticamente el equivalente autos\u00f3mico recesivo del mecanismo de FSHD2: falla la maquinaria que mantiene silenciada la heterocromatina repetitiva, en vez de fallar la repetici\u00f3n misma<\/li>\n<\/ul>\n\n\n\n<p><strong>&#8212;- Epilepsia miocl\u00f3nica progresiva tipo 1 (Unverricht-Lundborg)<\/strong>.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Gen <em>CSTB<\/em> (cistatina B)<\/li>\n\n\n\n<li>Repetici\u00f3n <strong>dodec\u00e1mera<\/strong> (12 pb) en el promotor \u2014 tama\u00f1o frontera entre microsat\u00e9lite y minisat\u00e9lite, otro caso que no encaja limpiamente en STR cl\u00e1sico<\/li>\n\n\n\n<li>Mecanismo: <strong>expansi\u00f3n<\/strong> (a diferencia de FSHD) pero el resultado es <strong>p\u00e9rdida de funci\u00f3n por reducci\u00f3n transcripcional<\/strong>, no toxicidad de prote\u00edna ni de ARN \u2014 la expansi\u00f3n en el promotor simplemente dificulta la transcripci\u00f3n del gen<\/li>\n\n\n\n<li>\u00datil como contraste: expansi\u00f3n que causa p\u00e9rdida de funci\u00f3n pura, sin ganancia t\u00f3xica<\/li>\n<\/ul>\n\n\n<div id=\"zotpress-d2f43649a7b242d3fbf320fad751bea5\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY 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id=\"zp-ID-2455-19955111-N989PCPW\" data-zp-author-date='Depienne-and-Mandel-2021-05-06' data-zp-date-author='2021-05-06-Depienne-and-Mandel' data-zp-date='2021-05-06' data-zp-year='2021' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Depienne C, Mandel JL. 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? The American Journal of Human Genetics [Internet]. 2021 May 6 [cited 2021 Sept 19];108(5):764\u201385. Available from: <a class='zp-ItemURL' href='https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929721000951'>https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929721000951<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\t\t\t\t<div id=\"zp-ID-2455-19955111-XHVJIQA4\" data-zp-author-date='Chintalaphani-et-al.-2021-05-25' data-zp-date-author='2021-05-25-Chintalaphani-et-al.' data-zp-date='2021-05-25' data-zp-year='2021' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics. Acta Neuropathologica Communications [Internet]. 2021 May 25 [cited 2021 Sept 19];9(1):98. Available from: <a class='zp-ItemURL' href='https:\/\/doi.org\/10.1186\/s40478-021-01201-x'>https:\/\/doi.org\/10.1186\/s40478-021-01201-x<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>1. Clasificaci\u00f3n por tama\u00f1o de unidad 2. Por qu\u00e9 son inestables (mecanismo com\u00fan) Consecuencia cl\u00ednica: anticipaci\u00f3n gen\u00e9tica = manifestaci\u00f3n fenot\u00edpica de esta inestabilidad mei\u00f3tica creciente (sesgo paterno o materno seg\u00fan la enfermedad). 3. Tres mecanismos seg\u00fan localizaci\u00f3n de la repetici\u00f3n (bloque STR) A) Ex\u00f3n codificante, tripletes (CAG=poliQ) B) Regi\u00f3n no codificante (UTR, intr\u00f3n), gran expansi\u00f3n &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/str-short-tandem-repeat-disorders\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abTR (tandem repeat) disorders.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":2476,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2455","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2455","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2455"}],"version-history":[{"count":6,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2455\/revisions"}],"predecessor-version":[{"id":8514,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2455\/revisions\/8514"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2476"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2455"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2455"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2455"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}