A Novel AMH Missense Mutation in a Patient with Persistent Mullerian Duct Syndrome

被引：11
|
作者：
van der Zwan, Y. G. [1 ]
Bruggenwirth, H. T. [5 ]
Drop, S. L. S. [1 ]
Wolffenbuttel, K. P. [2 ]
Madern, G. C. [3 ]
Looijenga, L. H. J. [4 ]
Visser, J. A. [6 ]
机构：
[1] Erasmus MC Univ Med Ctr Rotterdam, Dept Pediat Endocrinol, Rotterdam, Netherlands
[2] Erasmus MC Univ Med Ctr Rotterdam, Dept Pediat Urol, Rotterdam, Netherlands
[3] Erasmus MC Univ Med Ctr Rotterdam, Sophia Childrens Hosp, Dept Pediat Surg, Rotterdam, Netherlands
[4] Erasmus MC Univ Med Ctr Rotterdam, Daniel den Hoed Canc Ctr, Josephine Nefkens Inst, Dept Pathol, Rotterdam, Netherlands
[5] Erasmus MC Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands
[6] Erasmus MC Univ Med Ctr Rotterdam, Dept Internal Med, Rotterdam, Netherlands
来源：
SEXUAL DEVELOPMENT | 2012年 / 6卷 / 06期
关键词：
Anti-Mullerian hormone; Missense mutation; Persistent Mullerian duct syndrome; TRANSVERSE TESTICULAR ECTOPIA; RECEPTOR; HORMONE; SEX; DIFFERENTIATION; TUMORS; GENE;
D O I：
10.1159/000339704
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Persistent Mullerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Mullerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation. Copyright (C) 2012 S. Karger AG, Basel
引用
收藏
页码：279 / 283
页数：5
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