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Patients with <jats:styled-content style=\"fixed-case\">PCD<\/jats:styled-content> have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, <jats:italic>situs inversus<\/jats:italic>, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight <jats:styled-content style=\"fixed-case\">PCD<\/jats:styled-content>\u2010associated genes (<jats:italic><jats:styled-content style=\"fixed-case\">DNAI<\/jats:styled-content>1, <jats:styled-content style=\"fixed-case\">DNAI<\/jats:styled-content>2, <jats:styled-content style=\"fixed-case\">DNAH<\/jats:styled-content>5, <jats:styled-content style=\"fixed-case\">DNAH<\/jats:styled-content>11, <jats:styled-content style=\"fixed-case\">CCDC<\/jats:styled-content>114, <jats:styled-content style=\"fixed-case\">CCDC<\/jats:styled-content>40, <jats:styled-content style=\"fixed-case\">CCDC<\/jats:styled-content>65,<\/jats:italic> and <jats:italic>C21orf59<\/jats: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 <jats:italic><jats:styled-content style=\"fixed-case\">DNAH<\/jats:styled-content>5<\/jats:italic> c.7502G&gt;C mutation (0.58%), the <jats:italic><jats:styled-content style=\"fixed-case\">DNAI<\/jats:styled-content>2<\/jats:italic> c.1304G&gt;A mutation (0.50%), and the <jats:italic>C21orf59<\/jats:italic> c.735C&gt;G mutation (0.48%), as well as lower frequencies for mutations in <jats:italic><jats:styled-content style=\"fixed-case\">DNAI<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">CCDC<\/jats:styled-content>65<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">CCDC<\/jats:styled-content>114<\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">DNAH<\/jats:styled-content>11<\/jats:italic> (0.10\u20130.29%). These results suggest that several of these genes should be considered for inclusion in carrier screening panels in the Ashkenazi Jewish population.<\/jats:p>","DOI":"10.1002\/mgg3.124","type":"journal-article","created":{"date-parts":[[2014,12,9]],"date-time":"2014-12-09T03:58:03Z","timestamp":1418097483000},"page":"137-142","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population"],"prefix":"10.1002","volume":"3","author":[{"given":"Anastasia M.","family":"Fedick","sequence":"first","affiliation":[{"name":"Department of Microbiology and Molecular Genetics Rutgers\u2010Robert Wood Johnson Medical School Piscataway New Jersey"},{"name":"Reproductive Medicine Associates of New Jersey Basking Ridge New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaim","family":"Jalas","sequence":"additional","affiliation":[{"name":"Bonei Olam, Center for Rare Jewish Genetic Disorders Brooklyn New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan R.","family":"Treff","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Genetics Rutgers\u2010Robert Wood Johnson Medical School Piscataway New Jersey"},{"name":"Reproductive Medicine Associates of New Jersey Basking Ridge New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[{"name":"Department of Medicine University of North Carolina School of Medicine Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pathology\/Lab Medicine University of North Carolina School of Medicine Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,12,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181bd12f4"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22261"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.015"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.727"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1004381107"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22371"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22520"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(01)44087-9"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2009.02.001"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061176"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0059722"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31815f247c"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0072299"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200601-084OC"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2011-200301"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201301-0059CI"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.003"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.114"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e328329cddb"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201305-110OC"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31815f6eac"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20656"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/731423"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1080\/01621459.1927.10502953"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200603-370OC"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.69.040705.141301"}],"container-title":["Molecular Genetics &amp; 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