title: Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
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.
authors: Department of Microbiology and Molecular Genetics, Rutgers-Robert Wood Johnson Medical School Piscataway, New Jersey ; Reproductive Medicine Associates of New Jersey Basking Ridge, New Jersey.
authors: Anastasia M
authors: AM
authors: Fedick
authors: Bonei Olam, Center for Rare Jewish Genetic Disorders Brooklyn, New Jersey.
authors: Chaim
authors: C
authors: Jalas
authors: Department of Microbiology and Molecular Genetics, Rutgers-Robert Wood Johnson Medical School Piscataway, New Jersey ; Reproductive Medicine Associates of New Jersey Basking Ridge, New Jersey.
authors: Nathan R
authors: NR
authors: Treff
authors: Department of Medicine, University of North Carolina School of Medicine Chapel Hill, North Carolina.
authors: Michael R
authors: MR
authors: Knowles
authors: Department of Pathology/Lab Medicine, University of North Carolina School of Medicine Chapel Hill, North Carolina.
authors: Maimoona A
authors: MA
authors: Zariwala
keywords: Ashkenazi; Kartagener syndrome; carrier frequency; primary ciliary dyskinesia; situs inversus