Analysis of clinical manifestations and gene mutations of patients with androgen insensitivity syndrome
Online published: 2015-08-27
Supported by
Foundation of Science and Technology Commission of Shanghai Municipality, 12411952408,13495810300; Foundation of Shanghai Municipal Health Bureau, 2011028
Objective To investigate the clinical manifestations and gene mutations of androgen receptor (AR) of 13 patients with androgen insensitivity syndrome. Methods Clinical data of 13 patients with androgen insensitivity syndrome who were treated at the Department of Endocrinology in Shanghai Children’s Hospital from 2012 to 2014 were collected. The peripheral blood of patients was collected. DNA was extracted and AR gene was sequenced. Results Six missense mutations of AR gene were found, i.e. c.528C>A (p.S176R), c.170T>A (p.L57Q), c.2567G>A (p. R856H), c.2107T>C (p.S703P), c.2740C>G (p.P914A), and c.2351A>G (p.Q784R). Among them, c.2107T>C (p.S703P), c.2740C>G (p.P914A), and c.2351A>G (p.Q784R) were new mutations. Conclusion Six missense mutations may all cause diseases and 3 new mutations may lead to complete androgen insensitivity syndrome.
Key words: androgen insensitivity syndrome; androgen receptor; mutation; disease
LIU Qing-xu , LI Pin . Analysis of clinical manifestations and gene mutations of patients with androgen insensitivity syndrome[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2015 , 35(7) : 990 . DOI: 11.3969/j.issn.1674-8115.2015.07.011
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