Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Issue 2 (6th December 2014)

• Record Type: Journal Article
• Authors: Fedick, Anastasia M.; Jalas, Chaim; Treff, Nathan R.; Knowles, Michael R.; Zariwala, Maimoona A.
• Is Part Of: Molecular genetics & genomic medicine. Volume 3:Issue 2(2015:Mar.)
• Page Start: 137
• Page End: 142
• Publication Date: 2014-12-06
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.124
• Languages: English
• ISSNs: 2324-9269

Abstract

<abstract abstract-type="main" id="mgg3124-abs-0001"> <title>Abstract</title> <p>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, <italic>situs inversus</italic>, 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 (<italic>DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, </italic> and <italic>C21orf59</italic>) 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 <italic>DNAH5</italic> c.7502G&gt;C mutation (0.58%), the <italic>DNAI2</italic> c.1304G&gt;A mutation (0.50%), and the <italic>C21orf59</italic> c.735C&gt;G mutation (0.48%), as well as lower frequencies for mutations in <italic>DNAI1</italic>, <italic> CCDC65</italic>, <italic> CCDC114</italic>, and <italic>DNAH11</italic> (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.</p> </abstract>