1. Clasificación por tamaño de unidad

  • STR (microsatélites): 1-6 pb → grueso de patología neurológica
  • VNTR (sentido amplio): número variable de copias, unidad mayor
  • Minisatélites clásicos: 10-60 pb (INS, MUC1)
  • Macrosatélites: miles de pb — mismo principio (nº variable de copias), unidad muchísimo mayor (FSHD/D4Z4)

2. Por qué son inestables (mecanismo común)

  • Deslizamiento de la ADN polimerasa durante replicación
  • Hebra naciente se disocia y reasocia en registro desplazado → bucle
  • Bucle en hebra naciente → expansión
  • Bucle en hebra molde → contracción
  • A mayor longitud previa, mayor probabilidad de bucle → inestabilidad no lineal tras umbral crítico (normal → premutación → mutación completa)

Consecuencia clínica: anticipación genética = manifestación fenotípica de esta inestabilidad meiótica creciente (sesgo paterno o materno según la enfermedad).

3. Tres mecanismos según localización de la repetición (bloque STR)

A) Exón codificante, tripletes (CAG=poliQ)

  • Proteína anómala con tracto de poliglutamina
  • Mal plegamiento → agregación intranuclear
  • Ganancia de función tóxica, dominante
  • Ej.: Huntington, SCAs, Kennedy (ligada a X)

B) Región no codificante (UTR, intrón), gran expansión

  • Silenciamiento epigenético → hipermetilación → pérdida de función (X frágil, Friedreich)
  • Toxicidad de ARN → secuestro de proteínas de splicing por ARN mensajero con repetición expandida (miotónica, C9orf72)
Maladies neurologiques causées par STR.
Phénotype abrégé (numéro MIM)GèneMode d'héritageMotif répétitifLocalisation sur GenePathogenic repeat numberaChromosomeCoordonnées (hg38)Phénotype cliniqueRéférences
C9-FTD
C9-ALS
(#10550)		C9orf72ANNONCE.GGGGCCRégion 5'24-4000chr92757348527573546Démence frontotemporale, sclérose latérale amyotrophique[32, 47, 65]
TOILE
(#614575)		RFC1A.R.(AAGGG)400-2000
(ACAGG)expérience
AAAAG (normal)		Intron2400-2000chr43934842539348483Ataxie cérébelleuse, neuropathie et syndrome d'aréflexie vestibulaire[11, 28, 138]
DM1
(#160900)		DMPKANNONCE.CTG
(Interruptions : GCC)		Région 3'50 à 10 000chr194577020545770266Dystrophie myotonique 1[60, 176]
DM2
(#602668)		CNBP (ZNF9)ANNONCE.CCTGIntron150 à 11 000chr3129172577129172656Dystrophie myotonique 2[176]
DRPLA
(#125370)		ATN1ANNONCE.CAGExon 549-93chr1269367176936775Atrophie dentatorubrale-pallidoluysienne[78]
EIEE1/XLID
(#308350)
(#300419)
(#300215)		ARXXLCCGExon 217-27chrX2501365425013697Spectre clinique de troubles comprenant l'encéphalopathie développementale et épileptique 1, l'hydranencéphalie avec organes génitaux anormaux, la lissencéphalie liée à l'X 2 et le retard mental lié à l'X 29[73, 150]
FAME1 (#601068)SAMD12ANNONCE.TTTCA
dans la région de répétition TTTTA		Intron4105-3680chr8118366813118366918Épilepsie myoclonique familiale adulte 1[22, 68]
FAME2
(#607876)		STARD7ANNONCE.ATTTC
dans la région de répétition ATTTT		Intron1150-460chr29619706796197124Épilepsie myoclonique familiale adulte 2[27]
FAME3
(#613608)		MARSF6ANNONCE.TTTCA
dans la région de répétition TTTTA		Intron1700-1035chr51035633910356411Épilepsie myoclonique familiale adulte 3[40]
RENOMMÉE6
(#618074)		TNRC6AANNONCE.TTTCA
dans la région de répétition TTTTA		Intron1?
(seulement 1 famille)		chr162461343924613532Épilepsie myoclonique familiale adulte 6[68]
FAME7
(#618075)		RAPGEF2ANNONCE.TTTCA
dans la région de répétition TTTTA		Intron 14?
(seulement 1 famille)		chr4159342527159342618Épilepsie myoclonique familiale de l'adulte 7[68]
FRAXÉ
(#309548)		FMR2 (AFF2)XLRCCGRégion 5' > 200chrX148500605148500753Retard mental lié à l'X, type FRAXE[53]
FRDA
(#229300)		FXNA.R.GAAIntron166-1300chr96903727569037314Ataxie de Friedreich[5, 19, 162]
FXS
(#300624)
FXTAS
(#300623)		RMF1XLCGGRégion 5'200 à 3 000
55-200		chrX147911979147912111Syndrome du X fragile
Syndrome de tremblement/ataxie du X fragile, insuffisance ovarienne prématurée 1		[162]
[56]
HD
(#143100)		HTTANNONCE.CAG
(Interruptions : CAA)		Exon136-250chr430748763074941La maladie de Huntington[96, 101]
HDL1
(#603218)		PRNPANNONCE.24 bases
octapeptide PHGGGWGQ		Exon 28-14chr2046993794699380Semblable à la maladie de Huntington 1[108]
HDL2
(#606438)		JPH3ANNONCE.CTGExon 2A40-59chr168760428387604329Maladie de Huntington 2[62]
HMNVWA1A.R.GGCGCGGGAGCExon13chr114357991435820Neuropathie motrice axonale héréditaire[121]
NIID
(#603472)		NOTCH2NLCANNONCE.CGGRégion 5′66-517chr1149390803149390842Maladie d'inclusion intranucléaire neuronale[55, 118, 146]
OPDM1
(#164310)		LRP12ANNONCE.CGGRégion 5′90-130chr8104588965104588999Myopathie oculopharyngodistal[69]
OPDM2
(#618940)		GIPC1ANNONCE.CGGRégion 5'70-164chr191449602914496104Myopathie oculopharyngodistal[172]
OPMD
(#164300)		PABPN1ANNONCE.G.C.G.Exon17-18chr142332147223321511Dystrophie musculaire oculopharyngée[15, 129]
OPML1
(#618637)		NUTM2B-AS1ANNONCE.CGGRégion 5′16-160chr107982636479826403Myopathie oculopharyngée avec leucoencéphalopathie 1[69]
SBMA
(#313200)		A.R.XLRCAGExon138-68chrX6754531767545419Amyotrophie spinale et bulbaire de Kennedy (maladie de Kennedy)[44, 82, 147]
SCA1
(#164400)		ATXN1ANNONCE.CAG
(Interruptions : CAT)		Exon 839-91chr61632763616327723Ataxie spinocérébelleuse 1[120, 141]
SCA2
(#183090)		ATXN2ANNONCE.CAG
(Interruptions : CAA, CGG, CGC)		Exon133-200
(29-32
risque accru de SLA)		chr12111598950111599019Ataxie spinocérébelleuse 2[18, 133, 141, 148]
SCA3
(#109150)		ATXN3ANNONCE.CAGExon 1053-87chr149207101192071052Ataxie spinocérébelleuse 3[74]
SCA6
(183086)		CACNA1AANNONCE.CAGExon 4719-33chr191320785813207897Ataxie spinocérébelleuse 6[141, 181]
SCA7
(#164500)		ATXN7ANNONCE.CAGExon134-460chr36391268563912716Ataxie spinocérébelleuse 7[18, 30]
SCA8
(#608768)		ATXN8ANNONCE.CAG/ÉTIQUETTE3'UTR74-1300chr137013938370139428Ataxie spinocérébelleuse 8[79, 141, 155]
SCA10
(#603516)		ATXN10ANNONCE.ATTCT
(Interruptions : ATCCT)		Intron9280-4500chr224579535545795424Ataxie spinocérébelleuse 10[88, 100, 141]
SCA12
(#604326)		PPP2R2BANNONCE.CAGRégion 5'51-78chr5146878729146878758Ataxie spinocérébelleuse 12[63, 94, 141]
SCA17
(#607136)		PADANNONCE.CAG
(Interruptions : CAT, CAA)		Exon 343-66chr6170561907170562017Ataxie spinocérébelleuse 17, pseudo-maladie de Huntington 4[97, 115, 141]
SCA31
(#117210)		HARICOT1ANNONCE.TGGAA
dans la région de répétition TAAAA et TAGAA		Intron/
Région intergénique		500-760
(> 110 répétitions TGGAA)		chr166649547566495509Ataxie spinocérébelleuse 31[134]
SCA36
(#614153)		NOP56ANNONCE.GGCCTGIntron1650-2500chr2026527332652775Ataxie spinocérébelleuse 36[77]
SCA37
(#615945)		DAB1ANNONCE.ATTTC
dans (ATTTT)7 à 400 répéter la région		Région 5'31-75chr15736704457367125Ataxie spinocérébelleuse 37[139]
ULD
(#254800)		CSTBA.R.CCCCGCCCCGCGEn amont
5'UTR		30-125chr214377644443776479Épilepsie myoclonique progressive 1A (maladie d'Unverricht et de Lundborg)[87, 91]
SLA, sclérose latérale amyotrophique ; AS, ARN antisens ; CANVAS, neuropathie d'ataxie cérébelleuse et syndrome d'aréflexie vestibulaire ; DM1 ; dystrophie myotonique 1 ; DM2 ; dystrophie myotonique 2 ; DRPLA, atrophie dentatorubrale-pallidoluysienne ; EIEE1, encéphalopathie épileptique infantile précoce 1 ; FAME, épilepsie myoclonique familiale de l'adulte ; FRAXE, syndrome XE fragile ; FRDA, ataxie de Friedreich ; FTD, démence frontotemporale ; FXS, syndrome du X fragile ; FXTAS, syndrome de tremblement/ataxie du X fragile ; HMN, neuropathie motrice héréditaire ; HD, maladie de Huntington ; HDL2, maladie de Huntington-like 2 ; HDL1, maladie de Huntington-like 1 ; LMN, motoneurone inférieur ; NIID, maladie d'inclusion intranucléaire neuronale ; OPDM, myopathie oculopharyngodistal ; OPMD, dystrophie musculaire oculopharyngée ; OPML, myopathie oculopharyngée avec leucoencéphalopathie ; SBMA, atrophie musculaire spinale et bulbaire ; SCA, ataxie spinocérébelleuse ; ULD, maladie d'Unverricht-Lundborg ; UMN, motoneurone supérieur ; XLID, déficience intellectuelle liée à l'X ;
aCes plages varient selon les études et souvent la limite supérieure est inconnue. Il est important de noter que ceux-ci ne sont que potentiellement pathogènes. Il existe une petite sous-section (< 1 %) de la population témoin saine qui présente des allèles élargis sans manifestations cliniques. De même, il existe des allèles inférieurs à la plage donnée qui peuvent avoir des allèles intermédiaires et des syndromes de prémutation.
Maladies congénitales et développementales causées par STR.
Phénotype (OMIM#)GèneMotifPathogenic repeat numberEmplacement(hg38)Références
BPES
(#110100)		RENARD2G.C.G.22-24Exonchr3138946022138946062[116]
ESCC
(#209880)		PHOX2BG.C.G.24-33Exonchr44174597641746022[7]
DBQD2
(#615777)		XYLT1GGC100-800Région 5'chr161747086917470967[86]
FECD3
(#613267)		TCF4TGC > 50Intronchr18a55222184a55635956a[167]
GDPAG
(#618412)		GLSGCA > 300Région 5'chr2190880873190880920[159]
H.F.G.
(#140000)		HOXA13G.C.G.24-26Exonchr72719982727199967[50]
HPE5
(#609637)		ZIC2G.C.G.25Exonchr139998544999985494[17]
HSAN8
(#616488)		PRDM12G.C.G.18-19Exonchr9130681606130681641[23]
SPD1
(#186000)		HOXD13G.C.G.22-29Exonchr2176093058176093099[2]
XLMR
(#300123)		SOX3G.C.G.15-26Exonchr3181712415181712456[89]
BPES, blépharophimosis, épicanthus inversus et ptosis ; ESCC, syndrome d'hypoventilation centrale congénitale ; DBQD2, dysplasie de Desbuquois 2 ; FECD3, dystrophie cornéenne endothéliale de Fuchs 3 ; GDPAG, retard de développement global, ataxie progressive et glutamine élevée ; HFG, syndrome main-pied-génital ; HPE5, holoprosencéphalie 5 ; SPD1, synpolydactylie 1 ; XLMR, retard mental lié à l'X
aEmplacement du gène entier répertorié

4. Bloque VNTR (sentido amplio)

Minisatélites clásicos

  • Variación de número de copias sin umbral patogénico brusco
  • Modulan riesgo poligénico (INS → diabetes tipo 1) o causan enfermedad estructural (MUC1 → ADTKD)
  • Base histórica del «DNA fingerprinting» forense

Macrosatélites

— FSHD como caso paradigmático

  • D4Z4 (subtelómero 4q35): unidad de 3.3 kb
  • Normal: 11-100 copias / Patológico: ≤10 copias (FSHD1) — contracción, no expansión
  • Contracción abre cromatina → desrepresión de DUX4 (normalmente silenciado en músculo adulto) → toxicidad
  • Requiere haplotipo permisivo 4qA (misma contracción en 4qB no causa enfermedad)
  • FSHD2: array normal, pero mutación en SMCHD1 → mismo resultado (desrepresión de DUX4) por vía trans, no por contracción cis
  • No sigue anticipación genética clásica (mecanismo epigenético, no carrera de repeticiones)
  • Sí, hay un grupo pequeño pero importante de enfermedades que comparten con FSHD el mecanismo «atípico» (repetición grande, no microsatélite clásico, y/o mecanismo epigenético en vez de toxicidad directa). Las más relevantes para tu esquema:

—- Síndrome ICF (Inmunodeficiencia, Inestabilidad Centromérica, anomalías Faciales)

  • Afecta repeticiones satélite 2 y 3 (secuencias pericentroméricas, no D4Z4, pero mismo principio de macrosatélite/heterocromatina repetitiva)
  • Mecanismo: mutaciones en DNMT3B (o ZBTB24, CDCA7, HELLS) → hipometilación de estas regiones repetidas → descondensación pericentromérica → inestabilidad cromosómica
  • Es prácticamente el equivalente autosómico recesivo del mecanismo de FSHD2: falla la maquinaria que mantiene silenciada la heterocromatina repetitiva, en vez de fallar la repetición misma

—- Epilepsia mioclónica progresiva tipo 1 (Unverricht-Lundborg).

  • Gen CSTB (cistatina B)
  • Repetición dodecámera (12 pb) en el promotor — tamaño frontera entre microsatélite y minisatélite, otro caso que no encaja limpiamente en STR clásico
  • Mecanismo: expansión (a diferencia de FSHD) pero el resultado es pérdida de función por reducción transcripcional, no toxicidad de proteína ni de ARN — la expansión en el promotor simplemente dificulta la transcripción del gen
  • Útil como contraste: expansión que causa pérdida de función pura, sin ganancia tóxica
19955111 {19955111:N989PCPW},{19955111:XHVJIQA4} 1 Vancouver 50 défaut 2455 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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