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Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

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. Thi...

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Autores principales: Yuan, Shi-Min, Zhang, Ya-Nan, Du, Juan, Li, Wen, Tu, Chao-Feng, Meng, Lan-Lan, Lin, Ge, Lu, Guang-Xiu, Tan, Yue-Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116692/
https://www.ncbi.nlm.nih.gov/pubmed/29785970
http://dx.doi.org/10.4103/aja.aja_17_18
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author Yuan, Shi-Min
Zhang, Ya-Nan
Du, Juan
Li, Wen
Tu, Chao-Feng
Meng, Lan-Lan
Lin, Ge
Lu, Guang-Xiu
Tan, Yue-Qiu
author_facet Yuan, Shi-Min
Zhang, Ya-Nan
Du, Juan
Li, Wen
Tu, Chao-Feng
Meng, Lan-Lan
Lin, Ge
Lu, Guang-Xiu
Tan, Yue-Qiu
author_sort Yuan, Shi-Min
collection PubMed
description 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[p.S704R], 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.
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spelling pubmed-61166922018-09-05 Phenotypic and molecular characteristics of androgen insensitivity syndrome patients Yuan, Shi-Min Zhang, Ya-Nan Du, Juan Li, Wen Tu, Chao-Feng Meng, Lan-Lan Lin, Ge Lu, Guang-Xiu Tan, Yue-Qiu Asian J Androl Original Article 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[p.S704R], 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. Medknow Publications & Media Pvt Ltd 2018 2018-05-18 /pmc/articles/PMC6116692/ /pubmed/29785970 http://dx.doi.org/10.4103/aja.aja_17_18 Text en Copyright: © The Author(s)(2018) http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Original Article
Yuan, Shi-Min
Zhang, Ya-Nan
Du, Juan
Li, Wen
Tu, Chao-Feng
Meng, Lan-Lan
Lin, Ge
Lu, Guang-Xiu
Tan, Yue-Qiu
Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
title Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
title_full Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
title_fullStr Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
title_full_unstemmed Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
title_short Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
title_sort phenotypic and molecular characteristics of androgen insensitivity syndrome patients
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116692/
https://www.ncbi.nlm.nih.gov/pubmed/29785970
http://dx.doi.org/10.4103/aja.aja_17_18
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