Table 3.
Phenotypic Characteristics and Status of GATA6 Mutations of the Affected Pedigree Members
|
Subject information |
Phenotypes |
Genotypes |
|||
|---|---|---|---|---|---|
| Identity | Gender | Age at time of present study (years) | Age at initial diagnosis of CHD (years) | Cardiovascular structural defects | GATA6 mutations |
| Family 1 | D404Y | ||||
| I-1 | M | 32 | 12 | VSD, PDA | +/− |
| II-1 | F | 6 | 5 | VSD, PS | +/− |
| II-2 | M | 3 | 2 | VSD | +/− |
| Family 2 | E460X | ||||
| II-1 | F | 2 | 0 | TOF | +/− |
“+” Indicates present and “−”denotes absent; F, female; M, male; PDA, patent ductus arteriosus; PS, pulmonary stenosis.