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Old 11-14-2017, 08:43 AM
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rss A recurrent synonymous mutation in the human androgen receptor gene causing complete

Related Articles A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.

J Steroid Biochem Mol Biol. 2017 Nov;174:14-16

Authors: Batista RL, Rodrigues ADS, Nishi MY, Gomes NL, Faria JAD, Moraes DR, Carvalho LR, Costa EMF, Domenice S, Mendonca BB

Abstract
Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS). The analysis of mRNA from testis showed that synonymous AR mutation changed the natural exon 1 donor splice site, with deletion of the last 92 nucleotides of the AR exon 1 leading to a premature stop codon 12 positions ahead resulting in a truncate AR protein. Linkage analyses suggested a probable founder effect for this mutation. In conclusion, we described the first synonymous AR mutation associated with CAIS phenotype, reinforcing the disease-causing role of synonymous mutations.


PMID: 28743543 [PubMed - indexed for MEDLINE]



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