Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia
作者机构：Department of AndrologyNanjing Drum Tower HospitalThe Affiliated Hospital of Nanjing University Medical SchoolNanjing 210008China
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2023年第25卷第6期
页 面：713-718页
核心收录：
学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学]
基 金：This work was supported by the National Natural Science Foundation of China(No.81971380)
主 题：DNAAF primary ciliary dyskinesia scoliosis splice site
摘 要：Primary ciliary dyskinesia(PCD)is a rare hereditary orphan condition that results in variable phenotypes,including *** 50 gene variants are reported in the scientific literature to cause PCD,and among them,dynein axonemal assembly factor 4(DNAAF4)has been recently ***4 has been implicated in the preassembly of a multiunit dynein protein essential for the normal function of locomotory cilia as well as *** the current study,a single patient belonging to a Chinese family was recruited,having been diagnosed with PCD and *** affected individual was a 32-year-old male from a nonconsanguineous *** also had abnormal spine structure and spinal cord bends at angles diagnosed with *** reports,laboratory results,and imaging data were ***-exome sequencing,Sanger sequencing,immunofluorescence analysis,hematoxylin-eosin staining,and in silico functional analysis,including protein modeling and docking studies,were *** results identified DNAAF4 disease-related variants and confirmed their *** analysis through whole-exome sequencing identified two pathogenic biallelic variants in the affected *** identified variants were a hemizygous splice site c.784-1GA and heterozygous 20.1 Kb deletion at the DNAAF4 locus,resulting in a truncated and functionless DNAAF4 *** analysis indicated that the inner dynein arm was not present in the sperm flagellum,and sperm morphological analysis revealed small sperm with twisted and curved flagella or lacking *** current study found novel biallelic variants causing PCD and asthenoteratozoospermia,extending the range of DNAAF4 pathogenic variants in PCD and associated with the etiology of *** findings will improve our understanding of the etiology of PCD.
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