X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.

ABSTRACT:

Background

The genetic basis of nonobstructive azoospermia is unknown in the majority of infertile men.

Methods

We performed array comparative genomic hybridization testing in blood samples obtained from 15 patients with azoospermia, and we performed mutation screening by means of direct Sanger sequencing of the testis-expressed 11 gene (TEX11) open reading frame in blood and semen samples obtained from 289 patients with azoospermia and 384 controls.

Results

We identified a 99-kb hemizygous loss on chromosome Xq13.2 that involved three TEX11 exons. This loss, which was identical in 2 patients with azoospermia, predicts a deletion of 79 amino acids within the meiosis-specific sporulation domain SPO22. Our subsequent mutation screening showed five novel TEX11 mutations:

SUBMITTER: Yatsenko AN 

PROVIDER: S-EPMC4470617 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature