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Article

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

European journal of human genetics : EJHG - 1 Feb 2015

Casey Jillian P, McGettigan Paul A, Healy Fiona, Hogg Claire, Reynolds Alison, Kennedy Breandan N, Ennis Sean, Slattery Dubhfeasa, Lynch Sally A

Abstract excerpt

We present a study of five children from three unrelated Irish Traveller families presenting with primary ciliary dyskinesia (PCD). As previously characterized disorders in the Irish Traveller population are caused by common homozygous mutations, we hypothesised that all three PCD families shared the same recessive mutation. However, exome sequencing showed that there was no pathogenic homozygous mutation common...

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Source

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Identifiers

PMID: 24824133
DOI: 10.1038/ejhg.2014.79
PMCID: PMC4297907

Genes

CCNO
KCNN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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