Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic features of a child with primary ciliary dyskinesia.@*METHODS@#Genomic DNA of the child and her parents was extracted and subjected to targeted gene capture and next generation sequencing. Suspected mutation was verified by Sanger sequencing, with its nature and impact predicted by Bioinformatic analysis.@*RESULTS@#Clinical manifestations of the child mainly included severe pneumonia, bronchiectasia, nasosinusitis and pneumothorax. DNA sequencing showed that she has carried compound heterozygous mutations of the CCNO gene, namely c.848T>C (p.L283P) and c.262_263 insGGCCCGGCCC (p.Q88Rfs*51), which were respectively inherited from her mother and father.@*CONCLUSION@#The child was diagnosed with primary ciliary dyskinesia caused by the compound heterozygous mutations of the CCNO gene.