Table 1.
General information
| ID | Sex | YOB |
HOXA1 mutation |
Hearing | Cardiac | Cognition | Comments |
|---|---|---|---|---|---|---|---|
| A1 | M | 1987 | 185delG | Deaf | Normal | Normal | |
| B1 | F | 1998 | 175- 176insG |
Deaf | Dual outlet right ventricle; subpulmonic VSD; interrupted aortic arch; PDA |
Autistic features; developmental delay |
Stroke during second cardiac surgery; seizures |
| C1 | M | 2003 | 175- 176insG |
Deaf | Tetrology of Fallot | Moderate developmental delay; seizures |
Low set ears; hypertrichosis; club foot |
| C2 | F | 2006 | 175- 176insG |
Deaf | VSD | Reportedly delayed | Club foot |
| C3 | F | 2003 | 175- 176insG |
Normal | Infantile CHF due to multiple VSD, closing spontaneously |
Developmentally normal |
|
| C4 | M | 2006 | 175- 176insG |
Normal | VSD | Developmentally normal |
|
| D1 | M | 1985 | 76C>T | Deaf | VSD closing spontaneously |
Severely delayed | Asymmetric face with mouth and nose deviated to left |
| E1 | F | 2003 | 76C>T | Deaf | Total anomalous pulmonary venous return |
Mildly delayed | |
| F1 | F | 1992 | 76C>T | Deaf | Normal | Mildly delayed |
Reported group includes individuals from six families (A, B, C, D, E, and F); 1 = proband in each family; additional numbers in family C indicate sibling (C2) and cousins (C3 and C4); YOB = year of birth; PDA = patent ductusarteriosus; VSD = ventriculoseptal defect. HOXA1 mutations were homozygous in all listed individuals.