Cystic fibrosis in Jews: Frequency and mutation distribution

Genetic Testing

Volumn 1, Issue 1, 1997, Pages 35-39

  Kerem, Batsheva ^a   Chiba Falek, Ornit ^a   Kerem, Eitan ^b  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; CYSTIC FIBROSIS; FEMALE; GENE FREQUENCY; GENETICS; HUMAN; JEW; MALE; MALE INFERTILITY; MUTATION; REVIEW;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENE FREQUENCY; HUMANS; INFERTILITY, MALE; JEWS; MALE; MUTATION;

EID: 0031292686     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1997.1.35     Document Type: Article

References (35)

1. ADAM, A. (1973). Genetic diseases among Jews. Isr. J. Med. Sci. 9, 1383-1392.
2. ANGUIANO, A., OATES, R.D., AMOS, J.A., DEAN, M., GERRARD, B., STEWART, C., MAHER, T.A., WHITE, M.B., and MILUNSKY, A. (1992). Congenital bilateral absence of the vas deference, a primarily genital form of Cystic fibrosis. JAMA 267, 1794-1797.
3. AUGARTEN, A., KEREM, B., YAHAV, Y., NOIMAN, S., RIVLIN, Y., TAL, A., BLAU, H., BEN-TUR, L., SZEINBERG, A., KEREM, E., and GAZIT, E. (1993). Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10kb C → T mutation. Lancet 342, 25-26.
4. BONNE-TAMIR, B., ASHBEL, S., and BAR-SHANI, S. (1978). Ethnic communities in Israel: The genetic blood markers of Moroccan Jews. Am. J. Phys. Anthrop. 49, 465-471.
5. CASALS, T., BASSAS, L., RUIZ-ROMERO, J., CHILLON, M., GIMENEZ, J., RAMOS, M.D., TAPIA, G., NARVAEZ, H., NUNES, V., and ESTIVILL, X. (1995). Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: In 50% of cases only one CFTR allele could be detected. Hum. Genet. 95, 205-211.
6. CHILLON, M., CASALS, T., MERCIER, B., BASSAS, L., LISSENS, W., SILBER, S., ROMEY, M.-C., RUIZ-ROMERO, J., VERLINGUE, C., CLAUSTRES, M., NUNES, V., FEREC, C., and ESTIVILL, X. (1995). Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. 332:1475-1480.
7. CULARD, J.-F., DESGEORGES, M., COSTA, P., LAUSSEL, M., RAZKATZARA, G., NAVRATIL, H., DEMAILLE, J., and CLAUSTRES, M. (1994). Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum. Genet. 93, 467-470.
8. ENCYCLOPEDIA JUDAICA. (1971). Ashkenaz. Kater Jerusalem 3, 719-721.
9. GAN, K.H., VEEZE, H.J., VAN DEN OUWELAND, A.M.W., HALLEY, D.J.J., SCHEFFER, H., VAN DER HOUT, A., OVERBEEK, S.E., DE JONGSTE, J.C., BAKKER, W., and HEIJERMAN, G.M. (1995). A cystic fibrosis mutation associated with mild lung disease. N. Engl. J. Med. 333, 95-99.
10. HIGHSMITH, W.E., LAURANELI, H., BURCH, M.S., ZHOU, Z., OLSEN, J.C., BOAT, T.E., SPOCK, A., GORVOY, J.D., QUITTELL, L., FRIEDMAN, K.J., SILVERMAN, L.M., BOUCHER, R.C., and KNOWLES, M.R. (1994). A novel mutation in the Cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N. Engl. J. Med. 331, 974-980.
11. HOLSCLAW, D.S., LOBEL, B., and JOCKIN, H. (1971). Schwachman H genital abnormalities in male patients with cystic fibrosis. J. Urol. 106, 568-574.
12. HSIAO, K., MEINER, Z., KAHAN, E., CASS, C., KAHANA, I., AVRAHAM, D., SCARLATO, G., ABRAMSKY, O., PRUSINER, S., and GABISON, R. (1991). Mutation of the prion protein in Libyan Jews with the Creutzfeld-Jakob disease. N. Engl. J. Med. 324, 1091-1097.
13. JARVI, K., ZIELENSKI, J., WILSCHANSKI, M., DURIE, P., BUCKSPAN, M., TULLIS, W., MARKIEVICZ, D., and TSUI, L.-C. (1995). Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet 345, 1578.
14. KEREM, B., ROMMENS, J.M., BUCHANAN, J.A., MARKIEWICZ, D., COX, T.K., CHAKRAVARTI, A., BUCHWALD, M., and TSUI, L.-C. (1989). Identification of the Cystic fibrosis gene: Genetic analysis. Science 245, 1073-1080.
15. KEREM, E., COREY, M., KEREM, B., ROMMENS, J.M., MARKIEWICZ, D., LEVISON, H., TSUI, L.-C., and DURIE, P. (1990). The relationship between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (ΔF508). N. Engl. J. Med. 323, 1517-1522.
16. KEREM, E., KALMAN, Y.M., YAHAV, Y., SHOSHANI, T., ABELYOVICH, D., SZIENBERG, A., RIVLIN, J., BLAU, H., TAL, A., BEN-TUR, L., SPRINGER, C., AUGARTEN, A., GODFREY, S., LERER, I., BRANSKI, D., FRIEDMAN, M., and KEREM, B. (1995). Incidence of cystic fibrosis and distribution of mutations in the CFTR gene among the Jewish population of Israel. Hum. Genet. 96, 193-197.
17. KEREM, E., HAREL-RAVE, N., AUGARTEN, A., MADGAR, I., NISSIM-RAFINIA, M., YAHAV, Y., GOSHEN, R., BENTUR, L., RIVLIN, J., AVIRAM, M., GENEM, A., CHIBA-FALEK, O., MORDECHAI, R., KREMER, M.D., SIMON, A., BRANSKI, D., and KEREM, B. (1997). A CFTR splice variant with partial penetrance associated with variable cystic fibrosis presentation. Am. J. Respir. Crit. Care Med. (in press).
18. KRISTIDIS, P.D., BOZON, B., COREY, M., MARKIEWICZ, D., ROMMENS, J., TSUI, L.-C., and DURIE, P. (1992). Genetic determinants of exocrine pancreatic function. Am. J. Hum. Genet. 50, 1178-1184.
19. LEVIN, S. (1963). Fibrocystic disease of the pancreas. Genetic of migrants and isolate populations, Goldschmidt, E. ed. (Williams and Wilkins, Baltimore) p. 293.
20. LEVIN, S., MOSES, S.W., CHAYOTH, R., JAGODA, N., and STEINITZ, K. (1967). Glycogen storage disease in Israel. 1st J. Med. Sci. 3, 397-410.
21. MERCIER, B., VERLINGUE, C., LISSENS, W., SILBER, S.J., NOVELLI, G., BONDUELLE, M., AUDREZET, M.P., and FEREC, C. (1995). Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am. J. Hum. Genet. 56, 272-277.
22. OATES, R.D., and AMOS, J.A. (1994). The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J. Andrology 15, 1-8.
23. OSBORN, L., SANTIS, G., SCHWARTZ, M., KLINGER, K., DORK, T., MCINTOSH, I., SCHWARTZ, M., NUNES, V., MACEK, JR M., REISS, J., HIGHSMITH, JR W.E., MCMAHON, R., NOVELLI, G., MALIK, N., BURGER, J., ANVRET, M., WALLACE, A., WILLIAMS, C., MATHEW, C., ROZEN, R., GRAHAM, C., GAPARINI, P., BAL, J., CASSIMAN, J.J., BALASSOPOULOU, A., DAVIDOW, L., RASKIN, S., KALAYDIJIEVA, L., KEREM, B., RICHARDS, S., SIMON-BOUY, B., SUPER, M., WULBRAND, U., KESTON, M., ESTIVILL, X., VAVROVA, V., FRIEDMAN, K.J., BARTON, D., DALLAPICCOLA, B., STUHRMANN, M., BEARDS, F., HILL, A.J.M., PIGNATTI, P.F., CUPPENS, H., ANGELICHEVA, D., TUMMLER, B., BROCK, D.J.H., CASALS, T., MACEK, JR M., SCHMIDTKE, J., MAGEE, A.C., BONIZZATO, A., DEBOECK, C., KUFFARDJIEVA, A., HUDSON, M., and KNIGHT, R.A. (1992). Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum. Gent. 89, 653-658.
24. OSBORNE, L.R., LYNCH, M., MIDDLETON, P.G., ALTON, E.W., GEDDES, D.M., PRYOR, J.P., HUDSON, M.E., and SANTIS, G.K. (1993). Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deference. Hum. Mol. Genet. 2,1605-1609.
25. OSBORNE, L.R., ALTON, E.W.F.W., and TSUI, L-C. (1994). CFTR intron 9 poly-T tract length in men with congenital absence of the vas deferens. Pediatr. Pulmonol. 10S:214.
26. RAVE-HAREL, N., MADGAR, L, GOSHEN, R., NISSIM-RAFINA, M., ZIADNI, A., RAHAT, A., CHIBA, O., KALMAN, Y.M., BRAUTBAR, C., LEVISON, D., AUGARTEN, A., KEREM, E., and KEREM, B. (1995). CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am. J. Hum. Genet. 56, 1359-1366.
27. REPORT OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM. (1990). Am. J. Hum. Genet. 47, 359-361.
28. RIORDAN, J.R., ROMMENS, J., KEREM, B., ALON, N., ROZMAHEL, R., GRZELCZAK, Z., ZIELENSKI, J., LOK, S., PLAVSIC, N., CHOU, J.-L., DRUMM, M.L., IANNUZZI, M.C., COLLINS, F.S., and TSUI, L.-C. (1989). Identification of the Cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245, 1066-1073.
29. ROMMENS, J., IANNUZZI, M.C., KEREM, B., DRUMM, M.L., MELMER, G., DEAN, M., ROZMAHEL, R., COLE, J.L., KENNEDY, D., HIDAKA, N., ZSIGA, M., BUCHWALD, M., RIORDAN, J.R., TSUI, L.-C., and COLLINS, F.S. (1989). Identification of the Cystic fibrosis gene: Chromosome walking and jumping. Science 245, 1059-1065.
30. SANTIS, G., OSBORNE, L., KNIGHT, R.A., and HODSON, M.E. (1990). Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet 336, 1081-1084.
31. SHOSHANI, T., AUGARTEN, A., GAZIT, E., BASHAN, N., YAHAV, Y., RIVLIN, Y., TAL, A., SERET, H., YAAR, L., KEREM, E., and KEREM, B. (1992). Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am. J. Hum. Genet. 50:222-228.
32. STRONG, T.V., SMIT, L.S., TURPIN, S.V., COLE, J.L., TOM HON, C., PETTY, T.L., CRAIG, M.W., ROSENAW, E.C., TSUI, L.-C., IANNUZZI, M.C., KNOWLES, M.R., and COLLINS, F.S. (1991). Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. N. Engl. J. Med. 325, 1630-1634.
33. THE CYSTIC FIBROSIS GENOTYPE-PHENOTYPE CONSORTIUM. (1993). Correlation between genotype and phenotype in patients with cystic fibrosis. N. Engl. J. Med. 329, 1308-1313.
34. WEINBERGER, A., SPERLING, O., RABINOVITZ, M., BROSH, S., ADAM, A., and DE-VRIES, A. (1974). High frequency of cystinuria among Jews of Libyan origin. Hum. Hered. 24, 568-572.
35. WELSH, M.J., TSUI, L.-C., BOAT, T.F., and BEAUDET, A.L. (1995). Cystic fibrosis. The metabolic basis of inherited disease, 7th ed. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. eds. (McGraw-Hill, New York) pp. 3799-3876.