Table 1
Clinical data of HOS patients with an identified mutation in the TBX5 gene
| ID number | Age (years) | Sex | Clinical description | Mutation in TBX5 | |
|---|---|---|---|---|---|
| Heart anomalies | Limb anomalies | ||||
| Familial cases | |||||
| IPM 1 | 31 | F | Conductive heart failure | Left and right thumb anomaly | IVS3-2 A>G |
| IPM 2-1 | 14 | F | Ventricular septal defect | Left aplastic thumb, right triphalangeal thumb | 280delC>FS ter |
| IPM 2-2 | 16 | F | Atrial septal defect II, several ventricular septal defects | Left and right hypoplastic claviculae, radii triphalangeal thumbs, hypoplastic left ulna | 280delC>FS ter |
| IPM 2-3 | 42 | F | Ventricular septal defect | Left and right triphalangeal thumbs | 280delC>FS ter |
| IPM 3-1 | 21 | F | Atrial septal defect II, open foramen ovale | Left and right hypoplastic thumbs | Y136X |
| IPM 3-2 | 44 | F | Atrial septal defect | Hypoplastic thumbs, movement restriction of elbow and shoulder joints | Y136X |
| IPM 3-3 | 47 | M | Atrial septal defect | Left and right hypoplastic thumbs | Y136X |
| IPM 4-1 | 42 | M | Atrial septal defect | Left and right hypoplastic humeri | Y136X |
| IPM 4-2 | 58 | M | Atrial septal defect | Left hypoplastic M. deltoideus, radius and thumb, right triphalangeal thumb | Y136X |
| IPM 4-3 | 61 | M | Atrial septal defect | Left and right aplastic thumbs | Y136X |
| Sporadic cases | |||||
| IPM 5 | 23 | F | Atrial septal defect II | Left and right thumb anomalies | 467insA>FS ter |
| IPM 6 | 30 | F | Aneurysm of the atrial septum bradycardia | Left aplastic radius and ulna, hypoplastic humerus, aplastic thumb and index finger, right hypoplastic radius, aplastic index finger, triphalangeal thumb | 484ins46bp>FS ter |
| IPM 7 | 3 | F | Small atrial septal defect, ventricular septal defect | Left and right thumb anomalies | IVS7-3 C>G |
| IPM 8 | 31 | F | Common atrium, complete atrioventricular canal | Left phocomelia, hypoplastic radius, right hypoplastic thumb | R279X |
| IPM 9 | 14 | F | Atrial septal defect, ventricular septal defect, pulmonary vein anomaly | Left and right triphalangeal thumb, movement restriction of shoulder joints | Q362X |
