A homozygous splice-site variant in ZMYND10 causes primary ciliary dyskinesia with primary infertility in a Chinese family

Primary ciliary dyskinesia (PCD) is a monogenic disorder of motile cilia characterized by impaired mucociliary clearance and multisystem involvement. We describe a patient with bronchiectasis, chronic rhinosinusitis, situs inversus, and primary infertility with hoard the ZMYND10 splice-site variant (NM_015896.4:c.511–1G>A). High-speed video microscopy (HSVM) demonstrated near-complete immotility of respiratory cilia. RT-PCR and cDNA sequencing revealed aberrant splicing with insertion of