迈耶-罗基坦斯基-库斯特-豪泽综合征女性患者中WNT基因家族的突变分析。

Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome.

作者信息

Ravel Celia, Lorenço Diana, Dessolle Lionel, Mandelbaum Jacqueline, McElreavey Ken, Darai Emile, Siffroi Jean Pierre

机构信息

Human Developmental Genetics, Institut Pasteur, Paris, France.

出版信息

Fertil Steril. 2009 Apr;91(4 Suppl):1604-7. doi: 10.1016/j.fertnstert.2008.12.006. Epub 2009 Jan 25.

DOI:10.1016/j.fertnstert.2008.12.006

PMID:19171330

Abstract

The aim of this study is to determine if Müllerian agenesis has a genetic basis linked to the WNT genes. Genomic DNA analyses for mutations in the coding sequences of four members of this family in a series of 11 women with Mayer-Rokitansky-Kuster-Hauser syndrome found four variants in the coding sequence of these genes, but causal mutations were not observed. This supports the hypothesis that mutations in the coding sequence of WNT4, WNT5A, WNT7A, and WNT9B are not responsible for the Mayer-Rokitansky-Kuster-Hauser syndrome.

摘要

本研究的目的是确定苗勒氏管发育不全是否具有与WNT基因相关的遗传基础。对一系列11例患有迈耶-罗基坦斯基-库斯特-豪泽综合征的女性进行了该家族四个成员编码序列突变的基因组DNA分析，在这些基因的编码序列中发现了四个变体，但未观察到致病突变。这支持了以下假设：WNT4、WNT5A、WNT7A和WNT9B编码序列中的突变与迈耶-罗基坦斯基-库斯特-豪泽综合征无关。