A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella

Abstract

we revealed a novel mutation in <i>CFAP47</i> and further expanded the phenotype and mutation spectrum of <i>CFAP47</i>, as well as the potential mechanism of <i>CFAP47</i> manipulating spermatogenesis, finally providing important guidance for genetic counseling and targeted treatment for <i>CFAP47</i> mutation-related male infertility.