Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study

被引：0
作者：
F. C. Soardi
F. Borchers Coeli
A. T. Maciel-Guerra
G. Guerra-Júnior
M. Palandi de Mello
机构：
[1] Campinas State University,Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering
[2] Campinas State University,Department of Medical Genetics, Faculty of Medical Sciences
[3] Campinas State University,Department of Pediatrics, Faculty of Medical Sciences
[4] CBMEG-UNICAMP,undefined
来源：
Journal of Applied Genetics | 2010年 / 51卷
关键词：
gene mutations; gene; XY gonadal dysgenesis;
D O I：
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学科分类号：
摘要：
TheSRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15–20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in theNR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in theNR5A1 gene, with normalSRY and no adrenal failure.
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页码：223 / 224
页数：1
相关论文
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