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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
  • +5
  • Yang Liu,
  • Zhang Jiaxun,
  • Zhang Li,
  • Geng Qian,
  • Zhiyong Xu,
  • Zhang Yanrui,
  • Peining Li,
  • Wu Weiqing
Yang Liu
Shenzhen Maternity and Childcare Hospital
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Zhang Jiaxun
Nanjing Jinling Hospital
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Zhang Li
Shenzhen Maternity and Childcare Hospital
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Geng Qian
Shenzhen Maternity and Childcare Hospital
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Zhiyong Xu
Shenzhen Maternity and Childcare Hospital
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Zhang Yanrui
Shenzhen Maternity and Childcare Hospital
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Peining Li
Yale University
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Wu Weiqing
Shenzhen Maternity and Childcare Hospital
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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.

Peer review status:ACCEPTED

15 Mar 2021Submitted to Clinical Case Reports
16 Mar 2021Assigned to Editor
16 Mar 2021Submission Checks Completed
29 Mar 2021Reviewer(s) Assigned
05 Apr 2021Review(s) Completed, Editorial Evaluation Pending
18 May 2021Editorial Decision: Accept