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Volume 19, Issue 2 (March 2017) 19, 260–261; DOI:10.4103/1008-682X.172647

A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

Lin Li, Wen-Miao Liu, Mei-Xin Liu, Shu-Qi Zheng, Ji-Xia Zhang, Feng-Yuan Che, Shi-Guo Liu

1Department of Genetics Counseling, Genetics Institute of Linyi People’s
Hospital, Linyi 276003, Shandong, China; 2Department of Clinical Laboratory
Diagnosis, Medical College of Qingdao University, Qingdao 266003, Shandong,
China; 3Department of Ultrasonography, The Affiliated Hospital of Qingdao
University, Qingdao 266003, Shandong, China; 4Department of Neurology, Linyi
People’s Hospital, Linyi 276003, Shandong, China; 5Department of Prenatal
Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao 266003,
Shandong, China.

Correspondence: Dr. SG Liu (qdmc_genetics@163.com) or Dr. FY Che (che1971@126.com)

Date of Submission 21-Apr-2015 Date of Decision 16-Jul-2015 Date of Acceptance 20-Nov-2015 Date of Web Publication 22-Jan-2016


Dear Editor,
Androgen Insensitivity Syndrome (AIS) is an X‑linked recessive genetic
disorder presenting as male pseudohermaphroditism with gender
ambiguity or reversal.1 According to the reaction to androgens, subjects
with AIS can exhibit varying degrees of feminization, mainly in two
forms. One is complete androgen insensitivity syndrome (CAIS), in
which all patients are phenotypically female but with the karyotype 46,
XY; the other is partial androgen insensitivity syndrome (PAIS) with a
few male characteristics.2 As a result, they often come to hospital with
primary amenorrhea or infertility. The pathogenesis of AIS is unclear,
so it is crucial to explore its mechanism. AR (GenBank accession
no. NC_000023.11), located on chromosome Xq11–12, contains a
2763‑bp coding sequence divided into eight exons separated by introns
varying in size up to 90 kb, and codes for an 110 kD protein composed
of 919 amino acids.3,4 Highly expressed in the epididymis (which is
dependent on it for structure and function), the AR plays an important
role in binding to androgen in the cytosol to exert its normal effect.
AR mutations may interfere with the binding of androgen to the AR,
leading to loss‑of‑function or gain‑of‑function alterations.5 Because
of the very complex pathogenesis of AR mutations AIS, different
mutations may lead to different clinical phenotypes. In this research,
we focused on an AR mutation and described the gene mutation
associated with the genotype‑phenotype of a Chinese family with AIS.

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