A Novel Nonsense Mutation in Exon 1 of HSD17B3 Gene in an Egyptian 46, XY Adult Female Presenting with Primary Amenorrhea

被引：7
|
作者：
Hassan, H. A. [1 ]
Mazen, I. [2 ]
Gad, Y. Z. [1 ]
Ali, O. S. M. [4 ]
Mekkawy, M. [3 ]
Essawi, M. L. [1 ]
机构：
[1] Natl Res Ctr, Dept Med Mol Genet, Cairo, Egypt
[2] Natl Res Ctr, Dept Clin Genet, Cairo, Egypt
[3] Natl Res Ctr, Dept Human Cytogenet, Div Human Genet & Genome Res, Cairo, Egypt
[4] Al Azhar Univ, Dept Biochem, Fac Pharm Girls, Cairo, Egypt
来源：
SEXUAL DEVELOPMENT | 2013年 / 7卷 / 06期
关键词：
Disorders of sex development; Exon; 1; 17-beta-Hydroxysteroid dehydrogenase type 3; Nonsense mutation; Primary amenorrhea; 46XY-DSD; 17-BETA-HYDROXYSTEROID-DEHYDROGENASE TYPE-3 DEFICIENCY; DEHYDROGENASE-3;
D O I：
10.1159/000351822
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
17-beta-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46, XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene have been reported, involving all exons except exon 1. Herein, we investigated an Egyptian female with 46, XY karyotype and low testosterone/Delta 4-androstenedione ratio. Genomic DNA was extracted from blood samples, and then, direct DNA sequencing of HSD17B3 gene was performed. The patient had a homozygous mutation c. 198G>A in exon 1 resulting in a stop codon (p.W50X). The study presents the first mutation to be reported in exon 1 of the HSD17B3 gene. Copyright (C) 2013 S. Karger AG, Basel
引用
收藏
页码：277 / 281
页数：5
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