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A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293
  • Shengfang Qin,
  • Xueyan Wang,
  • Yunxing Li
Shengfang Qin
Sichuan Medical College

Corresponding Author:[email protected]

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Xueyan Wang
Sichuan Medical College
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Yunxing Li
Sichuan Medical College
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SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.
28 May 2021Submitted to Clinical Case Reports
01 Jun 2021Assigned to Editor
01 Jun 2021Submission Checks Completed
10 Jun 2021Reviewer(s) Assigned
28 Jun 2021Review(s) Completed, Editorial Evaluation Pending
30 Jul 2021Editorial Decision: Accept
Aug 2021Published in Clinical Case Reports volume 9 issue 8. 10.1002/ccr3.4706