Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2

The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published var...

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Bibliographic Details
Published in:BMC pediatrics 2023-12, Vol.23 (1), p.616-616, Article 616
Main Authors: Dong, Lili, Zhang, Lei, Li, Xiao, Mei, Shiyue, Shen, Yuelin, Fu, Libing, Zhao, Shunying, Tang, Xiaolei, Tang, Yu
Format: Article
Language:English
Subjects:
Analysis
Audiometry
Biopsy
Care and treatment
Chinese
Ciliary Motility Disorders - diagnosis
Ciliary Motility Disorders - genetics
Diagnosis
DNA sequencing
Dynein
Dynein axonemal assembly factor
Ear diseases
Ears & hearing
Ethylenediaminetetraacetic acid
Frameshift Mutation
Genetic aspects
Genetic research
Genetic variation
Genotype
Hearing loss
Hospitals
Humans
Infections
Lavage
Lungs
Motility
Movement disorders
Mutation
Nose
Nucleotide sequencing
Parents & parenting
Pediatrics
Phenotype
Pneumonia
Primary ciliary dyskinesia
Siblings
Sinusitis
Transmission electron microscopy
Tuberculosis
Variant
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Summary:The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date. A two-child family was recruited for the study. Clinical manifestations, laboratory tests, bronchoscopic and otoscopic images, and radiographic data were collected. Whole blood was collected from siblings and their parents for whole-exome sequencing (WES) and Sanger sequencing to screen variants. The two siblings exhibited typical clinical manifestations of PCD. Two compound heterozygous variants in DNAAF2 were detected in both by WES. Nonsense variant c.156 C>A and frameshift variant c.177_178insA, which was a novel variant. The study identified a novel variant of DNAAF2 in Chinese children with a typical phenotype of PCD, which may enrich our knowledge of the clinical, diagnostic and genetic information of DNAAF2-induced PCD in children.
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-023-04185-w