Analysis of Clinical Characteristics and Gene Variants Associated with Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is considered a monogenic heterogeneous recessive disorder.

This study aimed to identify clinical characteristics and gene mutations in children with PCD admitted to Quanzhou Women’s and Children’s hospital in China from January 2019 to January 2022.

Clinical manifestations, lung imaging, transmission electron microscopy (TEM) findings, and genetic test results were analyzed in this study.

For 8 patients, PCD manifestations included asthma, total visceral inversion, secretory otitis media, adenoid hypertrophy, gastroesophageal reflux, intestinal malrotation withmidguttorsion, andbronchiectasis. Primary ciliary dyskinesia-associated gene variants included DNAH11, DNAH5, RSPH4A, and CFAP300. Novel variants of DNAH11 (c.5460 + 5G > C, c.117499_11752delGTTA, and c.5822G > C), DNAH5 (c.4314delT and c.877dupA), RSPH4A (c.1774_1775delTT and c.1949A > G), and CFAP300 (c.603delG) were found in these children.

Recurrent cough, expectoration, purulent discharge, bronchiectasis, and visceral inversion provide clues for diagnosing early-onset PCD. Transmission electron microscopy and genetic testing improve early diagnosis, treatment delivery, and prognosis. Novel genotypes identified in this study expand the PCD genotypic spectrum.