Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella

The article found two novel CFAP69 pathogenic variants in a cohort of 35 asthenoteratospermia with short, coiled and irregular flagella. The authors also generated Cfap69 knockout mouse and found the similar sperm flagella defects in mice. This article provide a strong evidence of the CFAP69 variants and asthenoteratospermia. These findings indicate that asthenoteratospermia with special phenotype has strong genetic causes. Doctors should take full consideration of these genetic factors when they deal with these kind of asthenoteratospermia, as most of these patients cannot be treated with conventional drugs. Assisted Reproductive Technology should be the preferred choice for fertility request.  (By Dr. Xiaojin He, https://jmg.bmj.com/content/early/2018/11/10/jmedgenet-2018-105486 )

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