Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics.
Maram ArafatAvi HarlevIris Har-VardiEliahu LevitasTsvia PrielMoran GershoniCharles SearbyVal C SheffieldEitan LunenfeldRuti ParvariPublished in: Journal of medical genetics (2020)
This is the first report of a recessive mutation in CATIP in humans. The identified mutation may contribute to asthenozoospermia by its involvement in actin polymerisation and on the actin cytoskeleton. A mouse knockout homozygote for CATIP was reported to demonstrate male infertility as the sole phenotype.
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