A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome.

Author: Fu-wei LUO ¹ ; Wei-qing WU ; Qian GENG ; Fang LI ; Wu-bing CHEN ; Wan-xia GAN ; Jian-sheng XIE
Author Information

1. Center for Prenatal Diagnosis, Shenzhen Maternal & Children Health Care Hospital, Shenzhen, Guangdong, 518028 P. R. China.
Publication Type:Case Reports
MeSH: Adult; Androgen-Insensitivity Syndrome; genetics; Base Sequence; Humans; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; methods; Receptors, Androgen; genetics; Sequence Analysis, DNA; methods
From: Chinese Journal of Medical Genetics 2011;28(2):176-179
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).
METHODSDNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.
RESULTSDNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).
CONCLUSIONA novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. It may help us further understanding the pathogenesis of CAIS.