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

Julia Hunter-SchouelaMichael T GeraghtyRobert A HegeleDavid A DymentDavid St PierreJulie RicherHolden SheffieldMaimoona A ZariwalaMichael R KnowlesAnna LehmanSharon DellAdam J ShapiroThomas A Kovesi
Published in: Pediatric pulmonology (2023)
The discovery of this homozygous DNAH11 variant in widely disparate parts of the Nunangat (Inuit homelands) suggests this is a founder mutation that may be widespread in Inuit. Thus, PCD may be an important cause of chronic lung, sinus, and middle ear disease in this population. Inuit with chronic lung disease, including bronchiectasis or laterality defects, should undergo genetic testing for PCD. Consideration of including PCD genetic analysis in routine newborn screening should be considered in Inuit regions.
Keyphrases
  • cystic fibrosis
  • small molecule
  • high throughput
  • emergency department
  • single cell