Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.

ABSTRACT:

Study question

Can high-resolution array comparative genomic hybridization (CGH) analysis of DNA samples from women with primary ovarian insufficiency (POI) improve the diagnosis of the condition and identify novel candidate genes for POI?

Summary answer

A mutation affecting the regulatory region of growth differentiation factor 9 (GDF9) was identified for the first time together with several novel candidate genes for POI.

What is known already

Most patients with POI do not receive a molecular diagnosis despite a significant genetic component in the pathogenesis.

Study design, size, duration

We performed a case-control study. Twenty-six patients were analyzed by array CGH for identification of copy number variants. Novel changes were investigated in 95 controls

SUBMITTER: Norling A 

PROVIDER: S-EPMC4093997 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature