Cystic Fibrosis in Jews: Frequency and Mutation Distribution

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Abstract
The incidence of cystic fibrosis and the frequency of disease causing mutations varies among different ethnic groups and geographical regions around the world. The Jewish population is comprised of two major ethnic groups. Ashkenazi and Non-Ashkenazi. The latter is further classified according to country of origin. An extreme variability in the disease frequency (from 1:2400–1:39,000) was found among the different Jewish ethnic groups. In the entire Jewish CF population, only 12 mutations were identified that altogether enable the identification of 91% of the CF chromosomes. However, in each Jewish ethnic group, the disease is caused by a different repertoire of a small number of mutations. In several ethnic groups, there is a major CFTR mutation that accounts for at least 48% of the CF chromosomes. High proportion of the CF chromosomes can be identified in Ashkenazi Jews (95%), Jews originating from Tunisia (100%), Libya (91%), Turkey (90%), and Georgia (88%). High frequencies of CFTR mutations were found among infertile males with CBAVD who might not have additional CF clinical characteristics. Of the Jewish males with CBAVD, 77% carried at least one CFTR mutation. The 5T mutation is the major mutation in Jewish CBAVD affecteds accounting for 32% of the chromosomes among Ashkenazi Jews and 36% among the non-Ashkenazi Jews. Five additional CFTR mutations, W1282X (12%), ΔF508 (9%), N1303K (3%), D1152H, (5%)), and R117H (1%) were identified among Ashkenazi Jews with CBAVD. Only two mutations, ΔF508 and R117H, were found among non-Ashkenazi males with CBAVD. An increased frequency of the 5T allele was also found among Jewish patients with atypical CF presentation, 18% in Ashkenazi, and 10% in non-Ashkenazi Jews. In summary, we present the required information for genetic counseling of Jewish families with typical and atypical CF and for carrier screening of healthy Jewish individuals.