TITLE

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

AUTHOR(S)
Petroli, Reginaldo J.; Maciel-Guerra, Andréa T.; Soardi, Fernanda C.; de Calais, Flávia L.; Guerra-Junior, Gil; de Mello, Maricilda Palandi
PUB. DATE
January 2011
SOURCE
BMC Research Notes;2011, Vol. 4 Issue 1, p173
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Background: The androgen insensitivity syndrome may cause developmental failure of normal male external genitalia in individuals with 46,XY karyotype. It results from the diminished or absent biological action of androgens, which is mediated by the androgen receptor in both embryo and secondary sex development. Mutations in the androgen receptor gene, located on the X chromosome, are responsible for the disease. Almost 70% of 46,XY affected individuals inherited mutations from their carrier mothers. Findings: Molecular abnormalities in the androgen receptor gene in individuals of a Brazilian family with clinical features of severe forms of partial androgen insensitivity syndrome were evaluated. Seven members (five 46,XY females and two healthy mothers) of the family were included in the investigation. The coding exons and exonintron junctions of androgen receptor gene were sequenced. Five 46,XY members of the family have been found to be hemizygous for the c.3015C>T nucleotide change in exon 7 of the androgen receptor gene, whereas the two 46, XX mothers were heterozygote carriers. This nucleotide substitution leads to the p.L830F mutation in the androgen receptor. Conclusions: The novel p.L830F mutation is responsible for grades 5 and 6 of partial androgen insensitivity syndrome in two generations of a Brazilian family.
ACCESSION #
62847781

 

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