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

Autor:	Zhou Z; Center of Reproductive Medicine, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing 210008, China., Qi Q; Center of Reproductive Medicine, Jinling Clinical Medical College, Nanjing University of Chinese Medicine, Nanjing 210023, China., Wang WH; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China., Dong J; Center of Reproductive Medicine, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing 210008, China., Xu JJ; Center of Reproductive Medicine, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing 210008, China., Feng YM; Center of Reproductive Medicine, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing 210008, China., Zou ZC; Center of Reproductive Medicine, Jinling Hospital, The First School of Clinical Medicine, Southern Medical University, Nanjing 210007, China., Chen L; 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., Ma JZ; 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., Yao B; 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.
Jazyk:	angličtina
Zdroj:	Asian journal of andrology [Asian J Androl] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.
DOI:	10.4103/aja202477
Abstrakt:	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. (Copyright © 2024 Copyright: ©The Author(s)(2024).)
Databáze:	MEDLINE
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