期刊
SEXUAL DEVELOPMENT
卷 10, 期 3, 页码 147-151出版社
KARGER
DOI: 10.1159/000445983
关键词
46,XY complete gonadal dysgenesis; Disorders of sex development; MAP3K1; NR5A1; Sex determination
资金
- program Actions Concertees Interpasteuriennes (ACIP)
- EuroDSD in the European Community's Seventh Framework Programme as part of EU [201444, 295097, FP7-INCO-2011-6]
- Franco-Egyptian AIRD-STDF grant
The phenotypic spectrum of patients carrying NR5A1 mutations ranges from 46,XY gonadal dysgenesis to male infertility. Phenotypic variability could be due to digenic or oligogenic inheritance of pathogenic variants in other testis-determining genes. Here, exome sequencing identified 2 pathogenic de novo NR5A1 mutations in 2 patients with 46,XY gonadal dysgenesis, p.Q206Tfs*20 and p.Arg313Cys. The latter patient also carried a missense mutation in MAP3K1. Our data extend the number of NR5A1 gene mutations associated with gonadal dysgenesis. The combination of an NR5A1 mutation with a MAP3K1 variant may explain the phenotypic variability associated with NR5A1 mutations. (C) 2016 S. Karger AG, Basel
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