Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.

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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.background METHODS: Clinical characteristics, laboratory findings, and genetic results obtained for 75 patients with PCD were retrospectively reviewed at a single center in China. Genetic sequencing was conducted using whole-exome screening.Patient median age at diagnosis was 7.0 years (range: 2 months to 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% (6/75) of individuals. 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) were found in two patients respectively, seven genes (CCDC40, LRRC6, SPAG1, RSPH4A, ARMC4, CCDC114 and DNAH14, a novel gene) were each mutated once. No differences in classical clinical features were observed among patients with commonly observed PCD-associated genotypes. However, three of seven PIBO patients carried DNAH1 mutations.results INTERPRETATION: Besides typical clinical features, PIBO was observed as first presentation of pediatric PCD in China. An association of novel gene DNAH14 with PCD was observed, expanding the PCD genotypic spectrum.

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