Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Journal of the Endocrine Society
Sarah EskenaziPhilippe Touraine

Abstract

Primary ovarian insufficiency (POI) affects 1% of women under 40 years of age. POI is idiopathic in more than 70% of cases. Though many candidate genes have been identified in recent years, the prevalence and pathogenicity of abnormalities are still difficult to establish. Our primary objective was to evaluate the prevalence of gene variations in a large prospective multicentric POI cohort. Our secondary objective was to evaluate the correlation between phenotype and genotype. Two hundred and sixty-nine well-phenotyped POI patients were screened for variants of 18 known POI genes (BMP15, DMC1, EIF2S2, FIGLA, FOXL2, FSHR, GDF9, GPR3, HFM1, LHX8, MSH5, NOBOX, NR5A1, PGRMC1, STAG3, XPNPEP2, BHLB, and FSHB) by next generation sequencing (NGS). Abnormalities were classified as "variant" or "variant of unknown signification" (VUS) according to available functional tests or algorithms (SIFT, Polyphen-2, MutationTaster). One hundred and two patients (38%) were identified as having at least 1 genetic abnormality. Sixty-seven patients (25%) presented at least 1 variant. Forty-eight patients presented at least 1 VUS (18%). Thirteen patients (5%) had combined abnormalities. NOBOX variants were the most common gene variants involved in POI ...Continue Reading

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Citations

Aug 18, 2021·The Journal of Clinical Endocrinology and Metabolism·Sinéad M McGlacken-ByrneGerard S Conway
Oct 26, 2021·The Journal of Clinical Endocrinology and Metabolism·Cynthia A StuenkelRichard J Santen

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Software Mentioned

Ion Torrent semico
Torrent
SIFT
Torrent Variant Caller
Ampliseq Designer
Human Splicing Finder
SAS
Nextgene
NNSplice
MutationTaster

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