{"id":2455,"date":"2022-09-24T13:11:28","date_gmt":"2022-09-24T13:11:28","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2455"},"modified":"2022-09-24T13:40:22","modified_gmt":"2022-09-24T13:40:22","slug":"str-short-tandem-repeat-disorders","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/str-short-tandem-repeat-disorders\/","title":{"rendered":"STR (short tandem repeat) disorders."},"content":{"rendered":"\n
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Enfermedades neurol\u00f3gicas causadas por STR.<\/div><\/summary>
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Abbreviated phenotype (MIM number)<\/th>Gene<\/th>Mode of inheritance<\/th>Repeat Motif<\/th>Location on Gene<\/th>Pathogenic repeat numbera<\/sup><\/th>Chromosome<\/th>Coordinates (hg38)<\/th>Clinical phenotype<\/th>References<\/th><\/tr><\/thead>
C9-FTD
C9-ALS
(#10550)<\/td>		C9orf72<\/em><\/td>AD<\/td>GGGGCC<\/td>5\u2019 Region<\/td>24\u20134000<\/td>chr9<\/td>27573485<\/td>27573546<\/td>Frontotemporal dementia, amyotrophic lateral sclerosis<\/td>[32<\/a>, 47<\/a>, 65<\/a>]<\/td><\/tr>
CANVAS
(#614575)<\/td>		RFC1<\/em><\/td>AR<\/td>(AAGGG)400\u20132000<\/sub>
(ACAGG)exp<\/sub>
AAAAG (normal)<\/td>		Intron 2<\/td>400\u20132000<\/td>chr4<\/td>39348425<\/td>39348483<\/td>Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome<\/td>[11<\/a>, 28<\/a>, 138<\/a>]<\/td><\/tr>
DM1
(#160900)<\/td>		DMPK<\/em><\/td>AD<\/td>CTG
(Interruptions: CCG)<\/td>		3\u2019 Region<\/td>50\u201310,000<\/td>chr19<\/td>45770205<\/td>45770266<\/td>Myotonic dystrophy 1<\/td>[60<\/a>, 176<\/a>]<\/td><\/tr>
DM2
(#602668)<\/td>		CNBP<\/em> (ZNF9<\/em>)<\/td>AD<\/td>CCTG<\/td>Intron 1<\/td>50\u201311,000<\/td>chr3<\/td>129172577<\/td>129172656<\/td>Myotonic dystrophy 2<\/td>[176<\/a>]<\/td><\/tr>
DRPLA
(#125370)<\/td>		ATN1<\/em><\/td>AD<\/td>CAG<\/td>Exon 5<\/td>49\u201393<\/td>chr12<\/td>6936717<\/td>6936775<\/td>Dentatorubral-pallidoluysian atrophy<\/td>[78<\/a>]<\/td><\/tr>
EIEE1\/XLID
(#308350)
(#300419)
(#300215)<\/td>		ARX<\/em><\/td>XL<\/td>GCC<\/td>Exon 2<\/td>17\u201327<\/td>chrX<\/td>25013654<\/td>25013697<\/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>[73<\/a>, 150<\/a>]<\/td><\/tr>
FAME1 (#601068)<\/td>SAMD12<\/em><\/td>AD<\/td>TTTCA
within TTTTA repeat region<\/td>		Intron 4<\/td>105\u20133680<\/td>chr8<\/td>118366813<\/td>118366918<\/td>Familial adult myoclonic epilepsy 1<\/td>[22<\/a>, 68<\/a>]<\/td><\/tr>
FAME2
(#607876)<\/td>		STARD7<\/em><\/td>AD<\/td>ATTTC
within ATTTT repeat region<\/td>		Intron 1<\/td>150\u2013460<\/td>chr2<\/td>96197067<\/td>96197124<\/td>Familial adult myoclonic epilepsy 2<\/td>[27<\/a>]<\/td><\/tr>
FAME3
(#613608)<\/td>		MARCHF6<\/em><\/td>AD<\/td>TTTCA
within TTTTA repeat region<\/td>		Intron 1<\/td>700\u20131035<\/td>chr5<\/td>10356339<\/td>10356411<\/td>Familial adult myoclonic epilepsy 3<\/td>[40<\/a>]<\/td><\/tr>
FAME6
(#618074)<\/td>		TNRC6A<\/em><\/td>AD<\/td>TTTCA
within TTTTA repeat region<\/td>		Intron 1<\/td>?
(only 1 family)<\/td>		chr16<\/td>24613439<\/td>24613532<\/td>Familial adult myoclonic epilepsy 6<\/td>[68<\/a>]<\/td><\/tr>
FAME7
(#618075)<\/td>		RAPGEF2<\/em><\/td>AD<\/td>TTTCA
within TTTTA repeat region<\/td>		Intron 14<\/td>?
(only 1 family)<\/td>		chr4<\/td>159342527<\/td>159342618<\/td>Familial adult myoclonic epilepsy 7<\/td>[68<\/a>]<\/td><\/tr>
FRAXE
(#309548)<\/td>		FMR2<\/em> (AFF2<\/em>)<\/td>XLR<\/td>CCG<\/td>5\u2019 Region<\/td>\u2009>\u2009200<\/td>chrX<\/td>148500605<\/td>148500753<\/td>Mental retardation, X-linked, FRAXE type<\/td>[53<\/a>]<\/td><\/tr>
FRDA
(#229300)<\/td>		FXN<\/em><\/td>AR<\/td>GAA<\/td>Intron 1<\/td>66\u20131300<\/td>chr9<\/td>69037275<\/td>69037314<\/td>Friedreich ataxia<\/td>[5<\/a>, 19<\/a>, 162<\/a>]<\/td><\/tr>
FXS
(#300624)
FXTAS
(#300623)<\/td>		FMR1<\/em><\/td>XL<\/td>CGG<\/td>5\u2019 Region<\/td>200\u20133000
55\u2013200<\/td>		chrX<\/td>147911979<\/td>147912111<\/td>Fragile X syndrome
Fragile X tremor\/ataxia syndrome, premature ovarian failure 1<\/td>		[162<\/a>]
[56<\/a>]<\/td><\/tr>
HD
(#143100)<\/td>		HTT<\/em><\/td>AD<\/td>CAG
(Interruptions: CAA)<\/td>		Exon 1<\/td>36\u2013250<\/td>chr4<\/td>3074876<\/td>3074941<\/td>Huntington disease<\/td>[96<\/a>, 101<\/a>]<\/td><\/tr>
HDL1
(#603218)<\/td>		PRNP<\/em><\/td>AD<\/td>24-base
octapeptide PHGGGWGQ<\/td>		Exon 2<\/td>8\u201314<\/td>chr20<\/td>4699379<\/td>4699380<\/td>Huntington disease-like 1<\/td>[108<\/a>]<\/td><\/tr>
HDL2
(#606438)<\/td>		JPH3<\/em><\/td>AD<\/td>CTG<\/td>Exon 2A<\/td>40\u201359<\/td>chr16<\/td>87604283<\/td>87604329<\/td>Huntington disease-like 2<\/td>[62<\/a>]<\/td><\/tr>
HMN<\/td>VWA1<\/em><\/td>AR<\/td>GGCGCGGAGC<\/td>Exon 1<\/td>3<\/td>chr1<\/td>1435799<\/td>1435820<\/td>Hereditary axonal motor neuropathy<\/td>[121<\/a>]<\/td><\/tr>
NIID
(#603472)<\/td>		NOTCH2NLC<\/em><\/td>AD<\/td>CGG<\/td>5′ Region<\/td>66\u2013517<\/td>chr1<\/td>149390803<\/td>149390842<\/td>Neuronal intranuclear inclusion disease<\/td>[55<\/a>, 118<\/a>, 146<\/a>]<\/td><\/tr>
OPDM1
(#164310)<\/td>		LRP12<\/em><\/td>AD<\/td>CGG<\/td>5′ Region<\/td>90\u2013130<\/td>chr8<\/td>104588965<\/td>104588999<\/td>Oculopharyngodistal myopathy<\/td>[69<\/a>]<\/td><\/tr>
OPDM2
(#618940)<\/td>		GIPC1<\/em><\/td>AD<\/td>CGG<\/td>5\u2019 Region<\/td>70\u2013164<\/td>chr19<\/td>14496029<\/td>14496104<\/td>Oculopharyngodistal myopathy<\/td>[172<\/a>]<\/td><\/tr>
OPMD
(#164300)<\/td>		PABPN1<\/em><\/td>AD<\/td>GCG<\/td>Exon 1<\/td>7\u201318<\/td>chr14<\/td>23321472<\/td>23321511<\/td>Oculopharyngeal muscular dystrophy<\/td>[15<\/a>, 129<\/a>]<\/td><\/tr>
OPML1
(#618637)<\/td>		NUTM2B-AS1<\/em><\/td>AD<\/td>CGG<\/td>5′ Region<\/td>16\u2013160<\/td>chr10<\/td>79826364<\/td>79826403<\/td>Oculopharyngeal myopathy with leukoencephalopathy 1<\/td>[69<\/a>]<\/td><\/tr>
SBMA
(#313200)<\/td>		AR<\/em><\/td>XLR<\/td>CAG<\/td>Exon 1<\/td>38\u201368<\/td>chrX<\/td>67545317<\/td>67545419<\/td>Spinal and bulbar muscular atrophy of Kennedy (Kennedy’s disease)<\/td>[44<\/a>, 82<\/a>, 147<\/a>]<\/td><\/tr>
SCA1
(#164400)<\/td>		ATXN1<\/em><\/td>AD<\/td>CAG
(Interruptions: CAT)<\/td>		Exon 8<\/td>39\u201391<\/td>chr6<\/td>16327636<\/td>16327723<\/td>Spinocerebellar ataxia 1<\/td>[120<\/a>, 141<\/a>]<\/td><\/tr>
SCA2
(#183090)<\/td>		ATXN2<\/em><\/td>AD<\/td>CAG
(Interruptions: CAA, CGG, CGC)<\/td>		Exon 1<\/td>33\u2013200
(29\u201332
increased ALS risk)<\/td>		chr12<\/td>111598950<\/td>111599019<\/td>Spinocerebellar ataxia 2<\/td>[18<\/a>, 133<\/a>, 141<\/a>, 148<\/a>]<\/td><\/tr>
SCA3
(#109150)<\/td>		ATXN3<\/em><\/td>AD<\/td>CAG<\/td>Exon 10<\/td>53\u201387<\/td>chr14<\/td>92071011<\/td>92071052<\/td>Spinocerebellar ataxia 3<\/td>[74<\/a>]<\/td><\/tr>
SCA6
(183086)<\/td>		CACNA1A<\/em><\/td>AD<\/td>CAG<\/td>Exon 47<\/td>19\u201333<\/td>chr19<\/td>13207858<\/td>13207897<\/td>Spinocerebellar ataxia 6<\/td>[141<\/a>, 181<\/a>]<\/td><\/tr>
SCA7
(#164500)<\/td>		ATXN7<\/em><\/td>AD<\/td>CAG<\/td>Exon 1<\/td>34\u2013460<\/td>chr3<\/td>63912685<\/td>63912716<\/td>Spinocerebellar ataxia 7<\/td>[18<\/a>, 30<\/a>]<\/td><\/tr>
SCA8
(#608768)<\/td>		ATXN8<\/em><\/td>AD<\/td>CAG\/TAG<\/td>3\u2019 UTR<\/td>74\u20131300<\/td>chr13<\/td>70139383<\/td>70139428<\/td>Spinocerebellar ataxia 8<\/td>[79<\/a>, 141<\/a>, 155<\/a>]<\/td><\/tr>
SCA10
(#603516)<\/td>		ATXN10<\/em><\/td>AD<\/td>ATTCT
(Interruptions: ATCCT)<\/td>		Intron 9<\/td>280\u20134500<\/td>chr22<\/td>45795355<\/td>45795424<\/td>Spinocerebellar ataxia 10<\/td>[88<\/a>, 100<\/a>, 141<\/a>]<\/td><\/tr>
SCA12
(#604326)<\/td>		PPP2R2B<\/em><\/td>AD<\/td>CAG<\/td>5\u2019 Region<\/td>51\u201378<\/td>chr5<\/td>146878729<\/td>146878758<\/td>Spinocerebellar ataxia 12<\/td>[63<\/a>, 94<\/a>, 141<\/a>]<\/td><\/tr>
SCA17
(#607136)<\/td>		TBP<\/em><\/td>AD<\/td>CAG
(Interruptions: CAT, CAA)<\/td>		Exon 3<\/td>43\u201366<\/td>chr6<\/td>170561907<\/td>170562017<\/td>Spinocerebellar ataxia 17, Huntington disease-like 4<\/td>[97<\/a>, 115<\/a>, 141<\/a>]<\/td><\/tr>
SCA31
(#117210)<\/td>		BEAN1<\/em><\/td>AD<\/td>TGGAA
within TAAAA and TAGAA repeat region<\/td>		Intron\/
Intergenic region<\/td>		500\u2013760
(>\u2009110 TGGAA repeats)<\/td>		chr16<\/td>66495475<\/td>66495509<\/td>Spinocerebellar ataxia 31<\/td>[134<\/a>]<\/td><\/tr>
SCA36
(#614153)<\/td>		NOP56<\/em><\/td>AD<\/td>GGCCTG<\/td>Intron 1<\/td>650\u20132500<\/td>chr20<\/td>2652733<\/td>2652775<\/td>Spinocerebellar ataxia 36<\/td>[77<\/a>]<\/td><\/tr>
SCA37
(#615945)<\/td>		DAB1<\/em><\/td>AD<\/td>ATTTC
within (ATTTT)7\u2013400<\/sub> repeat region<\/td>		5\u2019 Region<\/td>31\u201375<\/td>chr1<\/td>57367044<\/td>57367125<\/td>Spinocerebellar ataxia 37<\/td>[139<\/a>]<\/td><\/tr>
ULD
(#254800)<\/td>		CSTB<\/em><\/td>AR<\/td>CCCCGCCCCGCG<\/td>Upstream
5\u2019 UTR<\/td>		30\u2013125<\/td>chr21<\/td>43776444<\/td>43776479<\/td>Progressive myoclonic epilepsy 1A (Unverricht and Lundborg disease)<\/td>[87<\/a>, 91<\/a>]<\/td><\/tr><\/tbody><\/table>
ALS, amyotrophic lateral sclerosis; AS, antisense RNA; 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;
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 (<\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
Enfermedades cong\u00e9nitas y del desarrollo causadas por STR.<\/div><\/summary>
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Phenotype (OMIM #)<\/th>Gene<\/th>Motif<\/th>Pathogenic repeat number<\/th>Location<\/th>(hg38)<\/th>References<\/th><\/tr><\/thead>
BPES
(#110100)<\/td>		FOXL2<\/em><\/td>GCG<\/td>22\u201324<\/td>Exon<\/td>chr3<\/td>138946022<\/td>138946062<\/td>[116<\/a>]<\/td><\/tr>
CCHS
(#209880)<\/td>		PHOX2B<\/em><\/td>GCG<\/td>24\u201333<\/td>Exon<\/td>chr4<\/td>41745976<\/td>41746022<\/td>[7<\/a>]<\/td><\/tr>
DBQD2
(#615777)<\/td>		XYLT1<\/em><\/td>GGC<\/td>100\u2013800<\/td>5\u2019 Region<\/td>chr16<\/td>17470869<\/td>17470967<\/td>[86<\/a>]<\/td><\/tr>
FECD3
(#613267)<\/td>		TCF4<\/em><\/td>TGC<\/td>\u2009>\u200950<\/td>Intron<\/td>chr18a<\/sup><\/td>55222184a<\/sup><\/td>55635956a<\/sup><\/td>[167<\/a>]<\/td><\/tr>
GDPAG
(#618412)<\/td>		GLS<\/em><\/td>GCA<\/td>\u2009>\u2009300<\/td>5\u2019 Region<\/td>chr2<\/td>190880873<\/td>190880920<\/td>[159<\/a>]<\/td><\/tr>
HFG
(#140000)<\/td>		HOXA13<\/em><\/td>GCG<\/td>24\u201326<\/td>Exon<\/td>chr7<\/td>27199827<\/td>27199967<\/td>[50<\/a>]<\/td><\/tr>
HPE5
(#609637)<\/td>		ZIC2<\/em><\/td>GCG<\/td>25<\/td>Exon<\/td>chr13<\/td>99985449<\/td>99985494<\/td>[17<\/a>]<\/td><\/tr>
HSAN8
(#616488)<\/td>		PRDM12<\/em><\/td>GCG<\/td>18\u201319<\/td>Exon<\/td>chr9<\/td>130681606<\/td>130681641<\/td>[23<\/a>]<\/td><\/tr>
SPD1
(#186000)<\/td>		HOXD13<\/em><\/td>GCG<\/td>22\u201329<\/td>Exon<\/td>chr2<\/td>176093058<\/td>176093099<\/td>[2<\/a>]<\/td><\/tr>
XLMR
(#300123)<\/td>		SOX3<\/em><\/td>GCG<\/td>15\u201326<\/td>Exon<\/td>chr3<\/td>181712415<\/td>181712456<\/td>[89<\/a>]<\/td><\/tr><\/tbody><\/table>
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
a<\/sup>Location of entire gene listed<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n\n\n
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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: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929721000951<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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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: https:\/\/doi.org\/10.1186\/s40478-021-01201-x<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"","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":0,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2455\/revisions"}],"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}]}}