Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

作     者：Shi-Min Yuan Ya-Nan Zhang Juan Du Wen Li Chao-Feng Tu Lan-Lan Meng Ge Lin Guang-Xiu Lu Yue-Qiu Tan 

作者机构：Reproductive and Genetic Hospital of Citic-Xiangya Changsha 410078 China Maternal and Child Health Hospital of Hunan Province Changsha 410078 China Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China 

出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)

年 卷 期：2018年第20卷第5期

页      面：473-478页

核心收录：

学科分类：090603[农学-临床兽医学] 0710[理学-生物学] 071010[理学-生物化学与分子生物学] 081704[工学-应用化学] 07[理学] 08[工学] 0817[工学-化学工程与技术] 09[农学] 0906[农学-兽医学] 

基　　金：The authors are grateful to the patients and their family members for participating in this study. This study was supported by grants from the National Natural Science Foundation of China (81771645 and 81471432 to YQT) 

主　　题：androgen insensitivity syndrome androgen receptor disorder of sex development mutation 

摘      要：Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel （c.2112 C〉G[***4R], c.2290T〉A[p.Y764N], c.2626C〉T[p.Q876X], c.933dupC[p.K313Qfs＊28], and c.1067delC[p.A356Efs＊123]）; the other five were previously reported （c.1789G〉A[p.A597T], c.2566C〉T[p.R856C], c.2668G〉A[p.V890M], c.2679C〉T[p.P893L], and c.1605C〉G[p.Y535X]）. Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% （3/10） of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.