First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis media, chronic rhinosinusitis, neonatal respiratory distress, and organ laterality defects. While severe lower respiratory tract infections and bronchiectasis are common in Inuit, PCD has not been recognized in this population.

Methods

We report a case series of seven Inuit patients with PCD identified by genetic testing in three Canadian PCD centers.

Results

Patients ranged from 4 to 59 years of age (at time of last evaluation) and originated in the Qikiqtaaluk region (Baffin Island, n = 5), Nunavut, or Nunavik (northern Quebec, n = 2), Canada. They had typical features of PCD, includi

SUBMITTER: Hunter-Schouela J 

PROVIDER: S-EPMC10330405 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature