Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. Results showed relatively high carrier frequencies for the DNAH5 c.7502G>C mutation (0.58%), the DNAI2 c.1304G>A mutation (0.50%), and the C21orf59 c.735C>G mutation (0.48%), as well as lower frequencies for mutations in DNAI1, CCDC65, CCDC114, and DNAH11 (0.10–0.29%). These results suggest that several of these genes should be considered for inclusion in carrier screening panels in the Ashkenazi Jewish population.
Highlights
Primary ciliary dyskinesia (PCD, MIM: 244400) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia
Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc
Samples identified as being heterozygous carriers were confirmed by Sanger Sequencing, and all genotypes were concordant between the two methods
Summary
Primary ciliary dyskinesia (PCD, MIM: 244400) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Escudier et al 2009; Leigh et al 2009; Knowles et al 2013a). PCD can be diagnosed in various manners including the detection of ultrastructural defects by transmission electron microscopy, abnormal ciliary beat frequencies or patterns, low levels of nasal nitric oxide, the presentation of typical clinical features, and mutation analysis in ciliary genes (Zariwala et al 2007; Escudier et al 2009; Leigh et al 2009, 2013; Knowles et al 2013a; Svobodova et al 2013)
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