Genetic analysis of DACT1 in 100 Chinese Han women with Mullerian duct anomalies

被引：3
作者：
Xing, Qiong [1 ,2 ,3 ]
Xu, Zuying [1 ,2 ,3 ]
Zhu, Ying [1 ,2 ,3 ]
Wang, Xi [4 ]
Wang, Jing [4 ]
Chen, Dawei [1 ,2 ,3 ]
Xu, Yuping [1 ,2 ,3 ]
He, Xiaojin [1 ,2 ,3 ]
Xiang, Huifen [1 ,2 ,3 ]
Wang, Binbin [4 ]
Cao, Yunxia [1 ,2 ,3 ]
机构：
[1] Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, Hefei 230022, Peoples R China
[2] Anhui Med Univ, Inst Reprod Genet, Hefei 230022, Peoples R China
[3] Anhui Prov Engn Technol Res Ctr Biopreservat & Ar, Hefei 230022, Peoples R China
[4] Natl Res Inst Family Planning, Beijing 100081, Peoples R China
来源：
REPRODUCTIVE BIOMEDICINE ONLINE | 2016年 / 32卷 / 04期
基金：
中国国家自然科学基金;
关键词：
DACT1; Mullerian duct anomalies; Mutation; Single nucleotide polymorphisms; FEMALE REPRODUCTIVE-TRACT; KUSTER-HAUSER-SYNDROME; GOGH-LIKE; CELL POLARITY; EMBRYONIC-DEVELOPMENT; GENITAL-TRACT; ABNORMALITIES; MALFORMATIONS; CATENIN; MICE;
D O I：
10.1016/j.rbmo.2016.01.003
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Dapper antagonist of catenin-1 (DACT1) plays an important role in embryogenesis and organogenesis of the female reproductive tract in mouse models. The aim of this study was to investigate the association between DACT1 mutations and human Mullerian duct anomalies (MDA). One hundred clinically well-defined Chinese Han patients with MDA and 200 healthy controls were recruited in this study. All four exons coding for DACT1 were amplified and sequenced. A missense mutation (c.G1084A, p.V362M) was identified in a patient who had a didelphic uterus and was absent from the control group. This variant changed the hydrophilicity of the amino acid residue and was predicted to be deleterious to the structure and function of DACT1 protein. The data indicate that the p.V362M mutation of DACT1 may be an underlying cause of MDA. (C) 2016 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码：420 / 426
页数：7
相关论文
共 34 条
  • [1] Complex malformations of the female genital tract.: New types and revision of classification
    Acién, P
    Acién, M
    Sánchez-Ferrer, M
    [J]. HUMAN REPRODUCTION, 2004, 19 (10) : 2377 - 2384
  • [2] Arguello Annie, 2013, Commun Integr Biol, V6, pe26656, DOI 10.4161/cib.26656
  • [3] WNT4 deficiency - a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A case report
    Biason-Lauber, A.
    De Filippo, G.
    Konrad, D.
    Scarano, G.
    Nazzaro, A.
    Schoenle, E. J.
    [J]. HUMAN REPRODUCTION, 2007, 22 (01) : 224 - 229
  • [4] Mutation screening of HOXA7 and HOXA9 genes in Chinese women with Mullerian duct abnormalities
    Chen, Xinxia
    Mu, Yulan
    Li, Chunyan
    Li, Guangyu
    Zhao, Hui
    Qin, Yingying
    Chen, Zi-Jiang
    [J]. REPRODUCTIVE BIOMEDICINE ONLINE, 2014, 29 (05) : 595 - 599
  • [5] Mutations in HOXA11 are not responsible for Mullerian duct anomalies in Chinese patients
    Chen, Xinxia
    Li, Guangyu
    Qin, Yingying
    Cui, Yuqian
    You, Li
    Chen, Zi-Jiang
    [J]. REPRODUCTIVE BIOMEDICINE ONLINE, 2014, 28 (06) : 739 - 742
  • [6] A novel mutation of HOXA10 in a Chinese woman with a Mullerian duct anomaly
    Cheng, Zhi
    Zhu, Ying
    Su, Dongmei
    Wang, Jing
    Cheng, Longfei
    Chen, Beili
    Wei, Zhaolian
    Zhou, Ping
    Wang, Binbin
    Ma, Xu
    Cao, Yunxia
    [J]. HUMAN REPRODUCTION, 2011, 26 (11) : 3197 - 3201
  • [7] Genomic imbalances associated with mullerian aplasia
    Cheroki, C.
    Krepischi-Santos, A. C. V.
    Szuhai, K.
    Brenner, V.
    Kim, C. A. E.
    Otto, P. A.
    Rosenberg, C.
    [J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (04) : 228 - 232
  • [8] Dapper, a Dishevelled-associated antagonist of β-catenin and JNK signaling, is required for notochord formation
    Cheyette, BNR
    Waxman, JS
    Miller, JR
    Takemaru, KI
    Sheldahl, LC
    Khlebtsova, N
    Fox, EP
    Earnest, T
    Moon, RT
    [J]. DEVELOPMENTAL CELL, 2002, 2 (04) : 449 - 461
  • [9] Variants of the WNT7A gene in Chinese patients with mullerian duct abnormalities
    Dang, Yujie
    Qin, Yingying
    Tang, Rong
    Mu, Yulan
    Li, Guangyu
    Xia, Mingdi
    Chen, Zi-Jiang
    [J]. FERTILITY AND STERILITY, 2012, 97 (02) : 391 - U111
  • [10] HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina
    Ekici, Arif B.
    Strissel, Pamela L.
    Oppelt, Patricia G.
    Renner, Stefan P.
    Brucker, Sara
    Beckmann, Matthias W.
    Strick, Reiner
    [J]. GENE, 2013, 518 (02) : 267 - 272
1234