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A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.
- Source :
-
The Journal of steroid biochemistry and molecular biology [J Steroid Biochem Mol Biol] 2017 Nov; Vol. 174, pp. 14-16. Date of Electronic Publication: 2017 Jul 22. - Publication Year :
- 2017
-
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.<br /> (Copyright © 2017 Elsevier Ltd. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1879-1220
- Volume :
- 174
- Database :
- MEDLINE
- Journal :
- The Journal of steroid biochemistry and molecular biology
- Publication Type :
- Academic Journal
- Accession number :
- 28743543
- Full Text :
- https://doi.org/10.1016/j.jsbmb.2017.07.020