Article
A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF).
Gene - 30 Oct 2017
Sha Yan-Wei, Xu Xiaohui, Mei Li-Bin, Li Ping, Su Zhi-Ying, He Xiao-Qin, Li Lin
Abstract excerpt
Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease associated with primary infertility; however, ~50% of the genetic alterations associated with MMAF remain unclear. Here, we reported the case of a 30-year-old infertile male from a consanguineous family. Whole-exome sequencing identified a homozygous mutation in the CEP135 gene (c.A1364T:p.D455V), with CEP135 previously reported...
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