A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility  

作　　者：Zheng Zhou Qi Qi Wen-Hua Wang Jie Dong Juan-Juan Xu Yu-Ming Feng Zhi-Chuan Zou Li Chen Jin-Zhao Ma Bing Yao 

机构地区：[1]Center of Reproductive Medicine,Jinling Hospital,Affiliated Hospital of Medical School,Nanjing University,Nanjing 210008,China [2]Center of Reproductive Medicine,Jinling Clinical Medical College,Nanjing University of Chinese Medicine,Nanjing 210023,China [3]State Key Laboratory of Reproductive Medicine,Nanjing Medical University,Nanjing 210029,China [4]Center of Reproductive Medicine,Jinling Hospital,The First School of Clinical Medicine,Southern Medical University,Nanjing210007,China

出　　处：《Asian Journal of Andrology》2025年第1期113-119,共7页亚洲男性学杂志(英文版)

基　　金：supported by the China Postdoctoral Science Foundation Grant(2023M734294);Jiangsu Provincial Medical Key Discipline Cultivation Unit(JSDW202215);the National Natural Science Foundation of China(No.82001618).

摘　　要：Primary ciliary dyskinesia(PCD)is a clinically rare,genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections,male infertility,tympanitis,and laterality abnormalities.PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia.Here,we identified a novel nonsense mutation,c.466G>T,in cilia-and flagella-associated protein 300(CFAP300)resulting in a stop codon(p.Glu156*)through whole-exome sequencing(WES).The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm(IDA)and outer dynein arm(ODA).Bioinformatic programs predicted that the mutation is deleterious.Successful pregnancy was achieved through intracytoplasmic sperm injection(ICSI).Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.

关 键 词：CFAP300 variant male infertility primary ciliary dyskinesia sperm flagella whole-exome sequencing 

分 类 号：R69[医药卫生—泌尿科学]