Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China

Overview

Journal Chest

Publisher Elsevier

Specialty Pulmonary Medicine

Date 2021 Feb 12

PMID 33577779

Citations 37

Authors

Yuhong Guan

Haiming Yang

Xingfeng Yao

Hui Xu

Hui Liu

Xiaolei Tang

Chanjuan Hao

Xiang Zhang

Shunying Zhao

Wentong Ge

Xin Ni

Affiliations

Soon will be listed here.

Abstract

Background: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum among populations worldwide. Few cases of pediatric PCD have been reported from China.

Research Question: What are the clinical and genotypic characteristics of children with PCD in China?

Study Design And Methods: Clinical characteristics, laboratory findings, and genetic results obtained for 75 patients with PCD were reviewed retrospectively at a single center in China. Genetic sequencing was conducted using whole-exome screening.

Results: Patient median age at diagnosis was 7.0 years (range, 2 months-14 years). Of 75 patients, 88% (66/75) had chronic wet cough, 77% (58/75) had recurrent sinusitis, 76% (57/75) had bronchiectasis, 40% (30/75) had neonatal respiratory distress, and 28% (21/75) had coexistent asthma. Notably, postinfectious bronchiolitis obliterans (PIBO) as first presentation was found in 8% of children (6/75). Genes with the highest incidence of mutations were DNAH11 (15/51), followed by DNAH5 (9/51), CCDC39 (5/51), DNAH1 (4/51), and CCNO (3/51). Four genes (DNAI1, HEATR2, RSPH9, and DNAAF3) each were respectively found in two patients, and seven genes (CCDC40, LRRC6, SPAG1, RSPH4A, ARMC4, CCDC114, and DNAH14, a novel gene) each were mutated once. No differences in classical clinical features were observed among patients with commonly observed PCD-associated genotypes. However, three of six PIBO patients carried DNAH1 mutations.

Interpretation: Besides typical clinical features, PIBO was observed as the first presentation of pediatric PCD in China. An association of the novel gene DNAH14 with PCD was observed, expanding the PCD genotypic spectrum.

Citing Articles

DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans.

Guan Y, Zhang X, Tang X, Yang H, Zhao S Orphanet J Rare Dis. 2025; 20(1):111.

PMID: 40065384 PMC: 11892238. DOI: 10.1186/s13023-025-03616-4.

Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.

Dong M, Shi X, Zhou Y, Duan J, He L, Song X Orphanet J Rare Dis. 2025; 20(1):97.

PMID: 40033371 PMC: 11874857. DOI: 10.1186/s13023-025-03596-5.

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.

Qin Y, Senglong M, Touch K, Xiao J, Fang R, Kang Q BMC Genomics. 2025; 26(1):82.

PMID: 39875822 PMC: 11773888. DOI: 10.1186/s12864-025-11277-7.

Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.

Zheng H, Cheng C, He M, Zhou W, Li Y, Dai J Mol Genet Genomic Med. 2025; 13(1):e70036.

PMID: 39764684 PMC: 11705539. DOI: 10.1002/mgg3.70036.

DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice.

Wang X, Shen G, Yang Y, Jiang C, Ruan T, Yang X Elife. 2024; 13.

PMID: 39503742 PMC: 11540302. DOI: 10.7554/eLife.96755.

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