Article

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

2022-11-22

Abstract excerpt

Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of infertility. It is often considered to be a monogenic disorder, with pathogenic variants in ∼100 genes described in the literature. We sought to systematically evaluate the penetrance of variants in these genes using exome sequence data in 104,733 women from the UK Biobank, 2,231 (1.14%) of whom reported natural menopause under the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a0ff9619-5c40-5030-8822-6391b48c6802
DOI: 10.1101/2022.11.21.22282589

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessiveDOI 10.1101/2022.11.21.22282589Read

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiencySemantic proximity Read

Epidemiology, Genetic Etiology, and Intervention of Premature Ovarian InsufficiencySemantic proximity Read

Landscape of pathogenic mutations in premature ovarian insufficiency.Semantic proximity Read

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of DiseaseSemantic proximity Read

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.Semantic proximity Read

Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.Semantic proximity Read

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.Semantic proximity Read

Genetics of Primary Ovarian Insufficiency.Semantic proximity Read

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.Semantic proximity Read

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.Semantic proximity Read

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic SpectrumSemantic proximity Read

Genetic Architecture of Non-Syndromic Premature Ovarian Insufficiency: A Systematic ReviewSemantic proximity Read