hrp0095p1-175 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Primary Ovarian Failure as a Result of Homozygous Mutations in MCM10 Gene

Landau Zohar , Florsheim Natan , Simon Itamar , Kramer Joyce , Renbaum Pinchas , Levy-Lahad Efrat , Zangen David

Background: Primary ovarian failure is (POF) characterised by primary amenorrhoea or early menopause in females. Minichromosome maintenance 10 (MCM10) is a gene involved in DNA damage repair, DNA replication and chromatin formation has received attention as a potential genetic etiology for neoplastic disease. Drosophila with mutated MCM10 have subfertility and dysfunction in female germline development. In humans, biallelic mutations of the MCM10 causes NK cel...