Abstract
Objectives PCD is an autosomal recessive condition that affects the structure and function of motile cilia in the respiratory tract, middle ear and reproductive organs. The estimated prevalence is 1:15,000, but as high as 1:2265 in the British Asian population. Mutations in the CCDC103 gene have recently been identified as PCD disease-causing in Pakistani individuals. It is found to be an essential gene for dynein arm assembly and ciliary motility.
Highlights
Seven had a defect of the ciliary inner and outer dynein arms demonstrated in ciliated nasal cells by electron microscopy
A further four children (3 siblings) presented with a phenotype suggestive of Primary Ciliary Dyskinesia (PCD) but electron microscopy studies were inconclusive on repeat testing
Genetic testing revealed the same CCDC103 homozygous mutations, making the diagnosis of PCD possible based on genetic analysis
Summary
Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD). E Robson1*, E Moya, T Burgoyne, P Chetcuti, M Dixon, R Hirst, C Hogg, H Mitchison, C O’Callaghan, A Onoufriadis, M Patel, A Rutman, E Sheridan, A Shoemark. From Cilia 2014 - Second International Conference Paris, France. From Cilia 2014 - Second International Conference Paris, France. 18-21 November 2014
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