Table 1. Microsatellite repeat expansion disorders.

Disorder	Gene	Sense repeat	Antisense repeat	Disease length	Location in gene	RAN translated proteins	References
PolyQ microsatellite repeat expansion disorders:
Dentatorubropallidoluysian Atrophy (DRPLA)	ATN1/DRPLA	CAG	Unknown	49–88	Exon 5	Unknown	[127]
Schizophrenia/migraines	KCNN3	CAG	Unknown	>28	Exon 1	Unknown	[128]
Prostate/breast Cancer	AIB/SRC-3	CAG/CAA	Unknown	>23	Exon 20	Unknown	[129]
Huntington's Disease (HD)	HTT	CAG	CTG	36–250	Exon 1	polyS, polyA, polyC, polyL in human brains & in vitro3	[2,52]
Spinal and Bulbar Muscular Atrophy (SBMA)	AR	CAG	Unknown	38–62	Exon 1	Unknown	[130]
Spinocerebellar Ataxia Type 1 (SCA1)	ATXN1	CAG	Unknown	49–88	Exon 8	Unknown	[131]
Spinocerebellar Ataxia Type 2 (SCA2)	ATXN2	CAG	CTG	33–77	Exon 1	polyQ, polyA, polyS in vitro3	[132,133]
Spinocerebellar Ataxia Type 3 (SCA3) or Machado-Joseph Disease (MJD)	ATXN3/MJD	CAG	CTG	55–86	Exon 10	polyQ, polyA, polyS in vitro3	[45,108,134]
Spinocerebellar Ataxia Type 6 (SCA6)	CACNA1A	CAG	Unknown	21–30	Exon 47	Unknown	[135]
Spinocerebellar Ataxia Type 7 (SCA7)	ATXN7	CAG	Unknown	28–120	Exon 3	Unknown	[136]
Spinocerebellar Ataxia Type 17 (SCA17)	TBP	CAG/CAA	Unknown	47–63	Exon 3	Unknown	[137]
Non-polyQ microsatellite repeat expansion disorders:
Amyotrophic lateral sclerosis (ALS)/Frontotemporal Dementia (FTD)	C9ORF72	GGGGCC	CCCCGG	30–4400	Intron 1	polyGA, polyGP, polyGR, polyPA, polyPR in human brains & in vitro3	[11,12,49–51,120]
Baratela-Scott Syndrome	XYLT1	GGC	Untranscribed expansion	>100	Promoter	Unknown	[138]
Blepharophimosis-Ptosis-Epicanthus Inversus Syndactylyl	FOXL2	GCG	Unknown	22–24	Exon 1	Unknown	[139]
Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)	RFC1	AAGGG	Unknown	400–2000	Intron 2	Unknown	[140]
Cleidocranial Dysplasia	RUNX2/CBFA1	GCG	Unknown	>20	Exon 1	Unknown	[141]
Congenital Central Hypoventilation/Haddad Syndrome	PHOX2B	GCG	Unknown	5–13	Exon 3	Unknown	[142]
Familial adult myoclonic epilepsy (FAME1/BAFME1)	SAMD12	TTTCA/TTTTA	Unknown	440–3680	Intron 4	Unknown	[143]
Fragile X syndrome (FRAXA/FXS)	FMR1	CGG	CCG	>230	5′-UTR	Unknown	[6]
Fragile X-associated tremor/ataxia syndrome (FXTAS)	FMR1	CGG	CCG	55–200	5′-UTR	polyG, polyP, polyA, polyR in vitro3 and Drosophila	[46,144,145]
Fragile X-associated Primary Ovary Insufficiency (FXPOI)	FMR1	CGG	Not found1	55–200	5′-UTR	polyG in biopsied human ovarian stromal cells	[146,147]
Fragile XE mental retardation (FRAXE)	AFF2/FMR2	CGG/CCG	Untranscribed expansion	>200	Promoter	Unknown	[17]
Fragile XF syndrome (FRAXF)	TMEN185A	GCC	Unknown	300–500	5′-UTR	Unknown	[148]
FRA2A-associated mental retardation	AFF3	CGG	Unknown	>300	5′-UTR	Unknown	[19]
FRA7A-associated autism spectrum disorder	ZNF713	CGG	Unknown	>85	Intron 1	Unknown	[19]
FRA10A-associated mental retardation	FRA10AC1	CGG	Unknown	>200	5′-UTR	Unknown	[20]
FRA11A-associated mental retardation	C11ORF80	CGG	Unknown	500	5′UTR	Unknown	[149]
FRA12A-associated mental retardation	DIP2B	CGG	Unknown	>50	5′-UTR	Unknown	[21]
FRA16A-associated mental retardation	LOC109617027	CGG	Unknown	1000–1900	5′-UTR	Unknown	[150]
Friedreich's ataxia (FRDA)	FXN/X25	GAA	TTC	>100	Intron 1	Unknown	[10]
Fuchs’ Endothelial Corneal Dystrophy (FECD)	TCF4	CTG	CAG	>50	Intron 3	polyC in human corneal endothelium + polyA, polyQ, polyS in vitro3	[151,152]
Hand-Foot-Genital Syndrome	HOXA13	GCG	Unknown	24–26	Exon 1	Unknown	[153]
Holoprosencephaly	ZIC2	GCG	Unknown	>25	Exon 3	Unknown	[154]
Huntington Disease-Like 2 (HDL2)	JPH3	CAG	CTG	>41	3′-terminal exon	polyQ, polyA, polyS in vitro3	[45,155]
Jacobsen Syndrome	FRA11B/CBL2	CGG	Not found1	100–1000	5′-UTR	Unknown	[156]
Myoclonus Epilepsy of the Unverricht-Lundborg Type	CYSTB	CCCCGCCCCGCG	Untranscribed expansion	12–13	Promoter	Unknown	[18]
Congenital Myotonic Dystrophy (CDM)/Steinert's Disease	DMPK	CTG	CAG	50–10000	3′-UTR	Unknown	[157]
Myotonic dystrophy (DM1)	DMPK	CTG	CAG	50–10000	3′-UTR	polyQ in human muscle/blood + polyA, polyS in vitro3	[7,8,45,157]
Myotonic dystrophy type 2 (DM2)	ZNF9	CCTG	GGAC	75–1100	Intron 1	polyQAGRpolyLPAC in human brains & in vitro3	[106,158]
Neuronal Intranuclear Inclusion Disease (NIID) & Amyotrophic lateral Sclerosis (ALS)	NOTCH2NLC	GGC	Unknown	>71	5′-UTR	Unknown	[159,160]
Oculopharyngeal Musclar Dystrophy	PABPN1/PABP2	GCG	Unknown	12–17	Exon 1	Unknown	[161]
Pseudoachrondroplasia and Multple Epiphyseal Displaysia (PSACH/MED)	COMP	GAC	Not found1	>6	Exon 13	Unknown	[162]
Spinocerebellar Ataxia Type 8 (SCA8)	ATXN8OS & ATXN8	CTG	CAG	110–250	3′-UTR ATXN8OS; 5′UTR ATXN8	polyA in human brains + polyS, polyQ in vitro3	[15,45]
Spinocerebellar ataxia Type 10 (SCA10)	ATXN10	ATTCT	Not found1	32–4000	Intron 9	Unknown	[163]
Spinocerebellar ataxia Type 12 (SCA12)	PPP2R2B	CAG	CTG	66–78	5′-UTR	Unknown	[164]
Spinocerebellar ataxia Type 31 (SCA31)	BEAN1	TGGAA	TTCCA	>110	Intron 1	polyWNGME?2 in vitro3	[165]
Spinocerebellar ataxia Type 36 (SCA36)	NOP56	GGCCTG	Unknown	>100	Intron 1	polyGP, polyPR in human brains + polyGL, polyWA in vitro3	[166,167]
Spinocerebellar ataxia Type 37 (SCA37)4	DAB1	ATTTC	GAAAT	31–75	5′-UTR	Unknown	[168]
Synpolydactylyl Type II (SPD)	HOXD13	GCG	Unknown	22–29	Exon 1	Unknown	[169]
X-Linked Dystonia-Parkinsonism (XPD)5	TAF1	CCCTCT	Unknown	35–52	Intron 32	Unknown	[170]
X-Linked Mental Retardation and Abnormal Genitalia (XLAG)	ARX	GCN	Unknown	20	Exon 2	Unknown	[171]
X-Linked Mental Retardation (XMLR)	ARX	GCN	Unknown	18–23	Exon 2	Unknown	[172]
X-linked Mental Retardation with Growth Hormone Deficiency (XLMRGHD)	SOX3	GCN	Unknown	15–26	Exon 1	Unknown	[173]

¹Not found indicates that antisense transcripts were not detected;

²The polypeptide polyWNGME is produced from the intronic repeat expansion, however it can not be confirmed as a RAN translation product due to the presence of an ATG sequence encoding a canonical AUG start codon within the repeat expansion;

³In vitro indicates that the RAN-translated proteins were detected from reporter constructs in transfected cell model of diseases;

⁴Not classical expansions but insertions due to replication/recombination/duplication events;

⁵Not classical expansion but insertion due to retrotransposon event.