Table 4.
GATA4 variants in 46,XY GD patients with/without CHD.
| Disease | CHD | Variant position | Nucleotide change | AA change | Inheritance pattern | Zygosity | Other DSD genes | References |
|---|---|---|---|---|---|---|---|---|
| 46,XY GD | VSD | Close to N-ZF |
c.725G>C | p.Cys242Ser | Maternal | Heterozygous | LHCGR: (c.52_c.53insTGC(p.L17dup)) | Our patients (patients 1 and 2) |
| 46,XY GD | Complexed CHDa | N-ZF | c.712T>C | p.Cys238Arg | De novo | Heterozygous | NA | Martinez de LaPiscina et al. (27) |
| 46,XY GD | NA | Close to N-ZF |
c.643A>G | p.Arg215Gyl | NA | Heterozygous | NA | Choi et al. (28), Igarashi et al. (29) |
| 46,XY GD | NA | N-ZF | c.677C>T | p.Pro226Leu | Maternal | Heterozygous | LHCGR:c.1660C>T(p.Arg554Stop) | Martinez de LaPiscina et al. (27) |
| 46,XY GD | NA | N-ZF | c.684G>C | p.Trp228Cys | NA | Heterozygous | LRP4:c.5660C>G(p.Ser1887Cys) | Martinez de LaPiscina et al. (27) |
| 46,XY GD | NA | TAD1 | c.34G>C | p.Gly12Arg | Maternal | Heterozygous | NA | Globa et al. (30) |
| 46,XY GD | NA | Non-conserved domain | c.1220C>A | p.Pro407Gln | NA | Heterozygous | Hemizygous for AR:c.226C>T(p.Q76*) (one out of five patients) | Choi et al. (28), Igarashi et al. (29) |
GD, gonadal dysgenesis; N-ZF, N-terminal zinc finger; CHD, congenital heart disease; VSD, ventricular septal defect; TAD1, transcription activation domain 1; NA, not available.
aVentricular septal defect, congenital compression of the left bronchus leading to an asymmetry in the caliber of the pulmonary branches with a hypoplastic left branch.