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

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.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Ravel C,Lorenço D,Dessolle L,Mandelbaum J,McElreavey K,Darai E,Siffroi JP

doi

10.1016/j.fertnstert.2008.12.006

subject

Has Abstract

pub_date

2009-04-01 00:00:00

pages

1604-7

issue

4 Suppl

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(08)04648-7

journal_volume

91

pub_type

杂志文章

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