An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

Table 2 Summary of known congenital and developmental disorders caused by short tandem repeat expansions.

Phenotype (OMIM #)	Gene	Motif	Pathogenic repeat number	Location	(hg38)			References
BPES (#110100)	FOXL2	GCG	22–24	Exon	chr3	138946022	138946062	[116]
CCHS (#209880)	PHOX2B	GCG	24–33	Exon	chr4	41745976	41746022	[7]
DBQD2 (#615777)	XYLT1	GGC	100–800	5’ Region	chr16	17470869	17470967	[86]
FECD3 (#613267)	TCF4	TGC	> 50	Intron	chr18^a	55222184^a	55635956^a	[167]
GDPAG (#618412)	GLS	GCA	> 300	5’ Region	chr2	190880873	190880920	[159]
HFG (#140000)	HOXA13	GCG	24–26	Exon	chr7	27199827	27199967	[50]
HPE5 (#609637)	ZIC2	GCG	25	Exon	chr13	99985449	99985494	[17]
HSAN8 (#616488)	PRDM12	GCG	18–19	Exon	chr9	130681606	130681641	[23]
SPD1 (#186000)	HOXD13	GCG	22–29	Exon	chr2	176093058	176093099	[2]
XLMR (#300123)	SOX3	GCG	15–26	Exon	chr3	181712415	181712456	[89]

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
^aLocation of entire gene listed

ISSN: 2051-5960