Table 2.
Summary of known congenital and developmental disorders caused by short tandem repeat expansions.
Adapted from Khristich and Mirkin [76]
| 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 | chr18a | 55222184a | 55635956a | [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