Table 3. Phenotypic characteristics and status of HAND2 mutation of the pedigree members affected with congenital heart disease.
| Subject Information | Phenotype | Genotype | ||
|---|---|---|---|---|
| Identity | Gender | Age (Years) | Cardiac Structural Defects | HAND2 Mutation |
| Family 1 | S65I | |||
| I-1 | M | 48a | VSD, PS | NA |
| II-1 | M | 60a | VSD | NA |
| II-1I | M | 56a | VSD, PS | NA |
| III-1 | M | 38 | VSD, PS | +/– |
| III-4 | F | 36 | VSD | +/– |
| III-6 | F | 32 | VSD | +/– |
| III-13 | M | 34 | VSD, PS | +/– |
| IV-2 | F | 9 | VSD | +/– |
| IV-6 | M | 4 | VSD, DORV | +/– |
| IV-11 | M | 7 | VSD, PS | +/– |
M, male; F, female; VSD, ventricular septal defect; PS, pulmonary stenosis; DORV, double outlet of right ventricle; NA, not available; +/–, heterozygote.
a
Age at death.