Clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the DNAH5 gene
LI Meng-yang
HUANG Shan
MA Li-na
WANG An-cong
Abstract：Objective:To investigate the clinical and genetic characteristics of a case of primary ciliary dyskinesia(PCD).Methods:We collected the clinical data on a case of PCD treated in the Department of Reproductive Medicine of Linyi People's Hospi-tal in July 2020,detected the genes of the patient by whole-exome sequencing(WES),verified the candidate mutations by Sanger se-quencing,and predicted the protein structure of the mutant gene by SWISS-MODEL.Results:The proband was found with the clini-cal phenotypes of chronic rhinitis,bronchiectasis,visceral transposition and male infertility.WES revealed a homozygous frameshift variation of c.12890dup(p.N4297Kfs*13)in exon 74 of the DNAH5 gene,which led to the premature termination of polypeptide chain synthesis and affected the gene function.SWISS-MODEL prediction showed that some of the amino acid residues were deleted af-ter mutation,resulting in a 3D conformational change of the protein.This variation was not recorded in the ClinVar,gnomAD and OMIM databases and,according to the relevant guidelines of the American College of Genetics and Genomics,was classified as a path-ogenic variation(PVS1+PM2_P+PM3_P).Conclusion:The homozygous variation of the DNAH5 gene c.12890dup(p.N4297Kfs*13)may be the cause of the clinical phenotype of this case of PCD,and the above findings have enriched the variation spectrum of the DNAH5 gene.
Keywords：DNAH5 geneprimary ciliary dyskinesiagenetic variationmale infertility
Publication Date：2024-01-20
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 44-50 )