Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

被引：21

作者：

Soardi, F. C. ^{[1
]}

Coeli, F. Borchers ^{[1
]}

Maciel-Guerra, A. T. ^{[2
]}

Guerra-Junior, G. ^{[3
]}

de Mello, M. Palandi ^{[1
]}

机构：

[1] Univ Estadual Campinas, Ctr Mol Biol & Genet Engn, Lab Human Mol Genet, Campinas, SP, Brazil

[2] Univ Estadual Campinas, Fac Med Sci, Dept Med Genet, Campinas, SP, Brazil

[3] Univ Estadual Campinas, Fac Med Sci, Dept Pediat, Campinas, SP, Brazil

来源：

JOURNAL OF APPLIED GENETICS | 2010年 / 51卷 / 02期

关键词：

gene mutations; NR5A1; gene; XY gonadal dysgenesis; STEROIDOGENIC FACTOR-I; INSUFFICIENCY; DISORDERS; AD4BP; SF-1;

D O I：

10.1007/BF03195733

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The SRY 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 the NR5A1 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 the NR5A1 gene, with normal SRY and no adrenal failure.

引用

页码：223 / 224

页数：2

共 6 条

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