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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families

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Asian Journal of Andrology 2021年第6期23卷 627-632页

作者： Ihsan Khan Basit Shah Sobia Dil Nadeem Ullah Jian-Teng Zhou Da-Ren Zhao Yuan-Wei Zhang Xiao-Hua Jiang Ranjha Khan Asad Khan Haider Ali Muhammad Zubair Wasim Shah Huan Zhang Qing-Hua Shi First Affiliated Hospital of USTC Hefei National Laboratory for Physical Sciences at Microscalethe CAS Key Laboratory of Innate Immunity and Chronic DiseaseSchool of Basic Medical SciencesDivision of Life Sciences and MedicineCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefei 230027China

Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregular caliber *** genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins(CFAPs;e.g.,CFAP43,CFAP44,CFAP65,CFAP69,CFAP70,and CFAP251)responsible for the MMAF phenotype in infertile men from different ethnic ***,none of them have been identified in infertile Pakistani males with *** the current study,two Pakistani families with MMAF patients were ***-exome sequencing(WES)of patients and their parents was *** analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families(Family 1:ENST00000357060.3,***300Lysfs*22 and ***526Serfs*43 in a compound heterozygous state;Family 2:ENST00000357060.3,***526Serfs*43 in a homozygous state).Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF *** reverse-transcriptase polymerase chain reaction(qRT-PCR)was carried out to detect the effect of the mutation on mRNA of the affected *** research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF *** the best of our knowledge,this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF *** study will help researchers and clinicians to understand the genetic etiology of MMAF better.

关键词： cilia and flagella-associated proteins male infertility multiple morphological abnormalities of the sperm flagella whole-exome sequencing

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