Open AccessCarrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population
Author(s) -
Fedick Anastasia M.,
Jalas Chaim,
Treff Nathan R.,
Knowles Michael R.,
Zariwala Maimoona A.
Publication year - 2015
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.124
Subject(s) - primary ciliary dyskinesia , situs inversus , mutation , population , genetics , motile cilium , medicine , infertility , dyskinesia , cilium , gene , biology , bronchiectasis , disease , pathology , lung , pregnancy , environmental health , parkinson's disease
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 ( DNAI 1, DNAI 2, DNAH 5, DNAH 11, CCDC 114, CCDC 40, CCDC 65, 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 DNAH 5 c.7502G>C mutation (0.58%), the DNAI 2 c.1304G>A mutation (0.50%), and the C21orf59 c.735C>G mutation (0.48%), as well as lower frequencies for mutations in DNAI 1 , CCDC 65 , CCDC 114 , and DNAH 11 (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.