High resolution X chromosome-specific array-CGH detects new CNVs in infertile males.

ABSTRACT:

Context

The role of CNVs in male infertility is poorly defined, and only those linked to the Y chromosome have been the object of extensive research. Although it has been predicted that the X chromosome is also enriched in spermatogenesis genes, no clinically relevant gene mutations have been identified so far.

Objectives

In order to advance our understanding of the role of X-linked genetic factors in male infertility, we applied high resolution X chromosome specific array-CGH in 199 men with different sperm count followed by the analysis of selected, patient-specific deletions in large groups of cases and normozoospermic controls.

Results

We identified 73 CNVs, among which 55 are novel, providing the largest collection of X-linked CNVs in relation to spermatogenesis.

SUBMITTER: Krausz C 

PROVIDER: S-EPMC3467283 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature