biostudies-literatureUnknown29(8)Norling A<h4>Study question</h4>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?<h4>Summary answer</h4>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.<h4>What is known already</h4>Most patients with POI do not receive a molecular diagnosis despite a significant genetic component in the pathogenesis.<h4>Study design, size, duration</h4>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 controlsHuman reproduction (Oxford, England)1818-27https://www.ebi.ac.uk/biostudies/studies/S-EPMC4093997biostudies-literatureIdentification 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.PMC4093997Norling AWedell AHirschberg ALRodriguez-Wallberg KABarbaro MIwarsson EfalseIdentification 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.<h4>Study question</h4>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?<h4>Summary answer</h4>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.<h4>What is known already</h4>Most patients with POI do not receive a molecular diagnosis despite a significant genetic component in the pathogenesis.<h4>Study design, size, duration</h4>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 controls2014-01-01T00:00:00Z2014 Aug2026-04-16T09:17:45.142Z2019-03-27T01:31:54ZS-EPMC40939972493995710.1093/humrep/deu149