| Full text | |
| Author(s): |
Batista, Rafael Loch
[1]
;
Rodrigues, Andresa di Santi
[1]
;
Nishi, Mirian Yumie
[1]
;
Gomes, Nathalia Lisboa
[1]
;
Diniz Faria Junior, Jose Antonio
[1]
;
de Moraes, Daniela Rodrigues
[1]
;
Carvalho, Luciani Renata
[1]
;
Frade Costa, Elaine Maria
[1]
;
Domenice, Sorahia
[1]
;
Mendonca, Berenice Bilharinho
[1]
Total Authors: 10
|
| Affiliation: | [1] Univ Sao Paulo, Lab Hormonios & Genet Mol LIM42, Unidade Endocrinol Desenvolvimento, Discipline Endocrinol & Metab, Hosp Clin, Fac Med, Sao Paulo - Brazil
Total Affiliations: 1
|
| Document type: | Journal article |
| Source: | JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY; v. 174, p. 14-16, NOV 2017. |
| Web of Science Citations: | 8 |
| 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 CATS phenotype, reinforcing the disease-causing role of synonymous mutations (AU) | |
| FAPESP's process: | 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |