loading page

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
Author Profile
Xueyan Wang
Sichuan Medical College
Author Profile
Yunxing Li
Sichuan Medical College
Author Profile

Abstract

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.

Peer review status:UNDER REVIEW

28 May 2021Submitted to Clinical Case Reports
01 Jun 2021Assigned to Editor
01 Jun 2021Submission Checks Completed
10 Jun 2021Reviewer(s) Assigned