Article
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).
Reproductive sciences (Thousand Oaks, Calif.) - 1 Jan 2019
Sha Yan-Wei, Wang Xiong, Xu Xiaohui, Su Zhi-Ying, Cui Yuanqing, Mei Li-Bin, Huang Xian-Jing, Chen Jie, He Xue-Mei, Ji Zhi-Yong, Bao Hongchu, Yang Xiaoyu, Li Ping, Li Lin
Abstract excerpt
Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease that causes primary infertility. However, the genetic causes for approximately half of MMAF cases are unknown. Whole exome sequencing analysis of the 27 patients with MMAF identified several CFAP44 mutations (3 homozygous: c.2935_2944del: p.D979*, c.T1769A: p.L590Q, c.2005_2006del: p.M669Vfs*13; and putative compound heterozygous:...
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