Table 1.
Detected Mutations in KIAA1279 Gene
| Mutation | Exon number | Ethnicity | Clinical features other than classical features | Reference |
|---|---|---|---|---|
| c.G250T (E84X) | Exon 1 | British Pakistani | Coloboma | (4) |
| c.C268T (R90X) | Exon 1 | Moroccan |
No Hirschsprung disease in some cases,
corneal hypoesthesia, strabismus, syndactyly, conductive hearing loss, proximal muscle weakness, megalocornea |
(3, 4) |
|
EX2-3DEL
(N143fsX1) |
Exons 2 and 3 | Pakistani | Fetal polymicrogyria, microcephaly, hypoplastic corpus callosum, No Hirschsprung disease, No cardinal signs of GOSHS | (7) |
| c.C599A (S200X) | Exon 3 | French, Moroccan | Ptosis, hyperopia, aortic valve incompetence, cryptorchidism, high palate, oligodontia, scoliosis, vesicoureteral reflux, multicystic renal dysplasia, femoral neck anteversion | (3) |
|
c.604_605delAG
(R202IfsX2) |
Exon 3 | Iraqi | Ventricular septal defect | (3) |
| c.1116_1117insA (Y466X) | Exon 7 | Not mentioned | Foot anomalies including camptodactyly and clinodactyly | (8) |
| c.C976T(Q326X) | Exon 6 | Iranian | Inguinal hernia, criptorchidism, seizure | The present study |