A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome
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Citações na Scopus
17
Tipo de produção
article
Data de publicação
2017
Título da Revista
ISSN da Revista
Título do Volume
Editora
PERGAMON-ELSEVIER SCIENCE LTD
Citação
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v.174, p.14-16, 2017
Resumo
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 CATS phenotype, reinforcing the disease-causing role of synonymous mutations
Palavras-chave
Androgen receptor, Androgen insensitivity syndrome, Synonymous mutations, DSD 46,XY, Complete androgen insensitivity, Disorders of sexual development
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