Article
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant.
Congenital anomalies - 1 Sept 2022
Shichiri Yui, Kato Yoshimi, Inagaki Hidehito, Kato Takema, Ishihara Naoko, Miyata Masafumi, Boda Hiroko, Kojima Arisa, Miyake Misa, Kurahashi Hiroki
Abstract excerpt
GATA4 is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report a pathogenic variant of GATA4 in a 46,XY DSD patient with an atrial septal defect, identified by whole-exome sequencing to be c.487C>T (p.Pro163Ser). This mutation resulted in reduced transcriptional activity of the downstream gene. When we compared this...
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