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

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外文摘要：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.

外文关键词：

CFAP300 variantmale infertilityprimary ciliary dyskinesiasperm flagellawhole-exome sequencing

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

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作者单位：

Center of Reproductive Medicine,Jinling Hospital,Affiliated Hospital of Medical School,Nanjing University,Nanjing 210008,China

Center of Reproductive Medicine,Jinling Clinical Medical College,Nanjing University of Chinese Medicine,Nanjing 210023,China

State Key Laboratory of Reproductive Medicine,Nanjing Medical University,Nanjing 210029,China

Center of Reproductive Medicine,Jinling Hospital,The First School of Clinical Medicine,Southern Medical University,Nanjing 210007,China

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出版年：

2025

DOI：

10.4103/aja202477

亚洲男性学杂志(英文版)

中国科学院上海药物研究所

亚洲男性学杂志(英文版)

影响因子：0.514

ISSN：1008-682X

年,卷(期)：2025.27(1)