Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella

作者：Sha, Yankun; Sha, Yanwei; Liu, Wensheng; Zhu, Xingshen; Weng, Mingxiang; Zhang, Xinzong^*; Wang, Yifeng^*; Zhou, Huiliang^*

来源：Clinical Genetics, 2021, 99(3): 443-448.

DOI：10.1111/cge.13898

• biallelic mutations
• CFAP58
• ICSI
• MMAF
• whole&#8208
• exome sequencing

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe type of teratozoospermia. In this study, whole-exome sequencing was conducted on 55 patients with MMAF, and biallelic mutations of CFAP58 were identified in two patients. The variants are rare and pathogenic, and CFAP58 was absent in the CFAP58-mutated sperm. The F037/II:1 couple benefited from intracytoplasmic sperm injection (ICSI). This study further indicated that CFAP58 is a pathogenic gene associated with MMAF and ICSI is an effective treatment.

• 单位
  1; 厦门大学; 广东省计划生育科学技术研究所; 南方医科大学