Clinical and genetic analysis of two patients with primary ciliary
dyskinesia caused by a novel mutation of DNAAF2
Objective: To investigate the clinical manifestations,
diagnosis and treatment processes of two siblings with PCD caused by the
same compound heterozygous mutations in DNAAF2. Methods: With
clinical diagnosis of PCD, the two siblings were recruited in the study.
We collected their clinical histories, laboratory tests, bronchoscopy,
otoscope images, and radiographic data. Whole blood of the siblings and
their parents were separately harvested for whole-exome sequencing and
Sanger sequencing. Results: The 7-year-old girl presented with
recurrent respiratory tract infection, sinusitis and otitis media.
Auxiliary examinations showed pneumonia, atelectasis, bronchiectasis,
low nitric oxide concentration (nNO), and conducting hearing loss. The
younger brother, 10-month boy, exhibited pneumonia, sinusitis, otitis
media, intestine malrotation and with lower nNO, atelectasis in chest
CT, obstructive ventilator dysfunction by pulmonary function and
conductive hearing loss. Two compound heterozygous mutations in DNAAF2
were detected in both of the siblings, nonsense mutation c.156C＞A and
frameshift mutation c.177_178insA, and the c.177_178insA (p.E60Rfs*3)
mutation is a novel mutation. Conclusion: The study enriches
our knowledge of clinical manifestations and genetic information of PCD
caused by DNAAF2.