Analysis of WNT9B mutations in Chinese women with Mayer-Rokitansky-Kuster-Hauser syndrome
Analysis of WNT9B mutations in Chinese women with Mayer-Rokitansky-Kuster-Hauser syndrome
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DOI：
10.1016/j.rbmo.2013.09.022
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发表时间：
2014-01-01
影响因子：
4
通讯作者：
Wang, Shixuan
中科院分区：
文献类型：
--
作者：
Wang, Man;Li, Yan;Wang, Shixuan
MRKH （Mayer-Rokitansky-Kuster-Hauser）综合征是一种罕见的先天性女性生殖器异常，由缪勒管尾部发育不全引起。WNT9B基因编码一种分泌性糖蛋白，这种糖蛋白对小鼠胚胎发育期间苗勒管的尾侧延伸至关重要。对42名中国MRKH综合征女性和42名对照者的WNT9B基因编码区和外显子/内含子边界进行了扩增和测序。发现了两种新的杂合突变，这在对照中是不存在的。一个是外显子1的错义突变，另一个位于3'-非翻译区。42例患者中有1例检测到这两种变异。这两个新的突变可能是MRKH患者的致病变异，值得进一步的功能研究。(C) 2013年，生殖保健有限公司Elsevier Ltd.出版。版权所有。
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital female genital anomaly, which is caused by aplasia of the caudal portion of the Mullerian duct. The WNT9B gene encodes a secretory glycoprotein essential for the caudal extension of the Mullerian duct during embryonic development in mice. Coding regions and exon/intron boundaries of the WNT9B gene were amplified and sequenced in 42 Chinese women with MRKH syndrome and 42 controls. Two novel heterozygous mutations were identified, which were absent in controls. One was a missense mutation in exon 1, and the other was located in the 3'-untranslated region. Both variants were detected in one out of 42 patients. The two novel mutations may be pathogenic variants in MRKH patients and warrant further functional study. (C) 2013, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.