Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development
Hui-Juan Jin,
Tie-Chao Ruan,
Si-Yu Dai
et al.
Abstract:Male infertility is a worldwide population health concern. Asthenoteratozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. No evidence indicates the relevance ofCFAP52mutations to human male infertility. Our whole-exome sequencing identified compound heterozygous mutations inCFAP52recessively cosegregating with male infertility status in a non-consanguineous Chinese family. Spermatozoa ofCFAP52-mutant patient mainly exhibited abnormal head-tail connection and de… Show more
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