Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.

ABSTRACT:

Background

Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.

Subjects and methods

Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene.

Results

Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively. Both had 46, XY karyotype. The mother was a heterozygous carrier in PAIS and negative in CAIS. These two were novel mutations, reported for the first time, in the AR gene. In silico analysis predicted that both mutations were damaging. We revie

SUBMITTER: Akella RR 

PROVIDER: S-EPMC5477437 | biostudies-literature | 2017 Jul-Aug

REPOSITORIES: biostudies-literature