Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.

Authors :: Demain LAM
Metcalfe K
Boetje E
Clayton P
Martindale EA
Busby G
O'Keefe RT
Newman WG
Source :: Reproductive biomedicine online [Reprod Biomed Online] 2022 Oct; Vol. 45 (4), pp. 727-729. Date of Electronic Publication: 2022 May 13.
Publication Year :: 2022
Abstract: Research Question: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea?<br />Design: A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.<br />Results: A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified.<br />Conclusions: The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.<br /> (Copyright © 2022 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.)

Subjects :: Adolescent
Female
Homozygote
Humans
Mutation, Missense
Bone Morphogenetic Protein 15 genetics
Primary Ovarian Insufficiency genetics

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