Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.

ABSTRACT

We identified a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus. This stopgain mutation was predicted to be disease causing by bioinformatics program (MutationTaster) and was also not presented in the current Genome Aggregation Database (gnomAD), Exome Aggregation Consortium (ExAC), Single Nucleotide Polymorphism Database (dbSNP), or National Heart, Lung, and Blood Institute (NHLBI) and Exome Sequencing Project (ESP). In addition, to the best of our knowledge, the present study was the first to report a CCDC151 mutation in primary ciliary dyskinesia patients with situs inversus in mainland China. In conclusion, our finding expands the spectrum of CCDC151 mutations, and more importantly our study provides additional support that CCDC151 plays important roles in left-right patterning and ciliary function.