Homozygous DMRT1 mutation c.967G>A found in a Chinese patient with 46,XY complete gonadal dysgenesis and review of literature

Yang Liu; Zhang Jiaxun; Zhang Li; Geng Qian; Zhiyong Xu; Zhang Yanrui; Peining Li; Wu Weiqing

doi:10.22541/au.161699356.65959936/v1

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Homozygous DMRT1 mutation c.967G>A found in a Chinese patient with 46,XY complete gonadal dysgenesis and review of literature

Yang Liu,
Zhang Jiaxun,
Zhang Li,
Geng Qian,
Zhiyong Xu,
Zhang Yanrui,
Peining Li,
Wu Weiqing

Abstract

A Chinese woman with 46,XY CGD was diagnosed by clinicopathologic findings . A homozygous mutation c.967G>A(p. Val323Ile) in the DMRT1 gene was detected in the patient by WES. As far as we know, this is the first case of 46,XY CGD caused by a homozygous mutation in the DMRT1 gene.