Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To detect variant of PIH1D3 gene in a Chinese pedigree affected with primary ciliary dyskinesia (PCD) and explore its genotype-relationship correlation.@*METHODS@#PCD patients from the pedigree were analyzed. Ultrastructures of the cilia and flagella of the nasal mucosa were analyzed. DNA samples of the patients were sequenced.@*RESULTS@#The proband and all other affected members of his pedigree had a history of various degree of respiratory tract infection. Two patients had visceral heterotopia, and one was infertile. Electronic microscopy revealed abnormal structures of cilia and flagella. The inner and outer dynein arms were missing, and the arrangement of cilia was disordered. DNA sequencing showed that all patients have carried a c.355C>T variant of the PIH1D3 gene. The corresponding nucleotide was located in a key PIH1 domain, and the site is highly conserved among human, macaque, domestic dog, mouse, xenopus and zebrafish.@*CONCLUSION@#Deletion of the PIH1D3 gene can lead to failure of assembly of inner and outer dynein arms in nasal cilia and sperm flagella, and failure of normal swimming of cilia and sperm. The diagnosis rate of PCD can be validated by genetic testing.