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hrp0094p1-50 | Sex Endocrinology and Gonads A | ESPE2021

Pathogenic variants in the human m⁶A reader YTHDC2 are associated with primary ovarian insufficiency

McGlacken-Byrne Sinead M , Torres Ignacio Del Valle , Stabej Polona Le Quesne , Belutti Laura , Ocaka Louise , Ishida Miho , Suntharalingham Jenifer P , Genomics UCL , Discovery GOSgene , Resource Human Developmental Biology , Dattani Mehul T , Kelberman Dan , Lagos Carlos F , Livera Gabriel , Conway Gerard S , Achermann John C ,

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

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ESPE Abstracts

Pathogenic variants in the human m⁶A reader YTHDC2 are associated with primary ovarian insufficiency

BiosciAbstracts

ESPE Abstracts

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

BiosciAbstracts

Pathogenic variants in the human m⁶A reader YTHDC2 are associated with primary ovarian insufficiency