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A novel recurrent mutation in CFAP47 causes male infertility with asthenoteratozoospermia
  • +5
  • Mohan Liu,
  • Siyu Dai,
  • Jiying Zhang,
  • Yanting Yang,
  • Chuan Jiang,
  • Yihong Yang,
  • Hongqian Liu,
  • Ying Shen
Mohan Liu
Sichuan University West China Second University Hospital

Corresponding Author:[email protected]

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Siyu Dai
Sichuan University West China Second University Hospital
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Jiying Zhang
Sichuan University West China Hospital
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Yanting Yang
Sichuan University West China Second University Hospital
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Chuan Jiang
Sichuan University West China Second University Hospital
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Yihong Yang
Sichuan University West China Second University Hospital
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Hongqian Liu
Sichuan University West China Second University Hospital
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Ying Shen
Sichuan University West China Second University Hospital
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Abstract

Multiple morphological abnormalities of the sperm flagella (MMAF) is an important cause of male infertility and is defined as absent, short, coiled, bent irregular flagella. In this study, we identified a novel missense mutation (c.1414G>A; p.V472M) in Cilia and flagella associated protein 47( CFAP47, NG_016381.2) in two unrelated patients with asthenoteratozoospermia. In addition to the typical MMAF phenotype very analogous to that of Cfap47 mutant male mice, the two patients also presented abnormal morphology of sperm heads, mitochondrial sheath disorganization, and defects of sperm annulus. Further functional experiments confirmed that the expression of CFAP47 was markedly reduced in the spermatozoa of the patients. Moreover, coimmunoprecipitation and immunofluorescence showed that CFAP47 might regulate CFAP65 and CFAP69 through physical interactions and is thus involved in sperm morphogenesis. In conclusion, we reveal a novel recurrent mutation in CFAP47 and further expand the clinical and mutational spectrum of CFAP47, finally providing important guidance for genetic counseling and targeted treatment.