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| Infertility and Recurrent Pregnancy Loss v1.31 | MCMDC2 |
Sarah Milton gene: MCMDC2 was added gene: MCMDC2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: MCMDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCMDC2 were set to PMID: 40897906; 35172124; 39789727; 36732629 Phenotypes for gene: MCMDC2 were set to Azoospermia, MONDO:0100459, MCMDC2-related Review for gene: MCMDC2 was set to GREEN Added comment: MCMDC2 encodes minichromosome maintenance domain-containing 2. It is involved in meiotic recombination and double stranded break repair for maintenance of fertility. 6 male individuals have been described thus far with homozygous missense/nonsense/fs variants with non obstructive azoospermia. Loss of function is the proposed mechanism of disease. MCMDC2 knockout mice have issues with double stranded break repair in meiosis and subsequent aberrant gametogenesis. 1 female individual has been described with a homozygous nonsense variant with premature ovarian insufficiency, in the same publication a heterozygous female was also described to have the same phenotype. Functional studies on variants in these two individuals demonstrated homologous repair efficiency to be reduced compared to wild type. Homozygous LOF variants are absent in gnomAD v4. Sources: Literature |
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