Phenotypic and molecular characteristics of androgen insensitivity syndrome patients / 亚洲男科学杂志(英文版)
Asian Journal of Andrology
;
(6): 473-478, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-1009610
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Síndrome de Resistência a Andrógenos
/
Análise Mutacional de DNA
/
Receptores Androgênicos
/
Mutação de Sentido Incorreto
/
Estudos de Associação Genética
/
Avaliação de Sintomas
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Asian Journal of Andrology
Ano de publicação:
2018
Tipo de documento:
Artigo
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