LAUSR

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. METHODS Clinical characteristics, laboratory findings, and genetic results obtained for 81 patients with PCD were retrospectively reviewed 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 to 14 years). Of 81 patients, 88% (72/81) had chronic wet cough, 79% (64/81) had recurrent sinusitis, 78% (63/81) had bronchiectasis, 40% (32/81) had neonatal respiratory distress, and 27% (22/81) had coexistent asthma. Notably, post infectious bronchiolitis obliterans (PIBO) as first presentation was found in 9% (7/81) of individuals. Genes with the highest incidence of mutations were DNAH11 (15/64), followed by HYDIN (13/64), DNAH5 (9/64), CCDC39 (5/64), DNAH1 (4/64) and CCNO (3/64). 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. CONCLUSION Besides typical clinical features, PIBO was often observed as first presentation of pediatric PCD in China. High HYDIN variant frequency and an association of DNAH14 with PCD were observed, demonstrating PCD genetic heterogeneity in China and expanding the PCD genotypic spectrum.