Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2

• Main Authors: Lili Dong (Author), Lei Zhang (Author), Xiao Li (Author), Shiyue Mei (Author), Yuelin Shen (Author), Libing Fu (Author), Shunying Zhao (Author), Xiaolei Tang (Author), Yu Tang (Author)
• Format: Book
• Published: BMC, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/s12887-023-04185-w; 1471-2431
• Keywords: Primary ciliary dyskinesia; Dynein axonemal assembly factor; Genotype; Variant; Chinese; Pediatrics; RJ1-570
• Source: BMC Pediatrics, Vol 23, Iss 1, Pp 1-9 (2023)

Abstract Background The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date. Methods A two-child family was recruited for the study. Clinical manifestations, laboratory tests, bronchoscopic and otoscopic images, and radiographic data were collected. Whole blood was collected from siblings and their parents for whole-exome sequencing (WES) and Sanger sequencing to screen variants. Results The two siblings exhibited typical clinical manifestations of PCD. Two compound heterozygous variants in DNAAF2 were detected in both by WES. Nonsense variant c.156 C>A and frameshift variant c.177_178insA, which was a novel variant. Conclusion The study identified a novel variant of DNAAF2 in Chinese children with a typical phenotype of PCD, which may enrich our knowledge of the clinical, diagnostic and genetic information of DNAAF2-induced PCD in children.