Unveiling the 46,XY disorder of sex development patients family with a novel mutation in the GATA4 gene

Abstract Background GATA-binding protein 4 (GATA4) is the critical regulator in gonadal development and its mutation has been reported related with 46,XY disorder of sex development (DSD). Here, we found the two Chinese cases with 46,XY DSD carried the GATA4 mutation. Physical examinations, B-ultrasound and Karyotype analysis were performed and confirmed the two patients with 46,XY DSD. Results Sequencing were performed and the heterozygous mutation p.Gly375Arg in GATA4 gene was identified in the 2 cases with 46,XY DSD. Their mother was identified carrying the p.Gly375Arg mutation in GATA4 protein. However, their father and litter sister without 46,XY DSD didn’t be found carrying the p.Gly375Arg mutation in GATA4 gene. Conclusion This is the first report that the case with 46,XY DSD carried the mutation Gly375Arg in the GATA4 gene. Our