Published in:
01-07-2019 | Cough | Scientific Letter
A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia
Authors:
Antony Terance Benjamin, Ram Ganesh, Balan Louis Gaspar, Jane Lucas, Claire Jackson, Marie Legendre, Rahma Mani, Estelle Escudier
Published in:
Indian Journal of Pediatrics
|
Issue 7/2019
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Excerpt
To the Editor: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder that disrupts the structure and function of motile cilia thereby resulting in impaired muco-ciliary clearance. In PCD, cilia are immotile or dyskinetic. Clinical phenotype includes term neonate with respiratory distress, early onset persistent wet cough, purulent nasal discharge, otitis media and later, bronchiectasis and fertility issues. Around one-half of PCD patients have situs inversus. In a patient with typical phenotype, the diagnosis of PCD is made using a combination of tests [
1]. We report for the first time a novel loss of function
HYDIN gene mutation in two siblings with PCD. …
