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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Arabs


Psychiatry related information on Arabs

  • We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly [6].
  • Comparisons of Bedouin adolescents to Palestinian adolescents from the West Bank and Gaza suggest that for older adolescents the impact of extreme social change on mental health adjustment generally parallels that of both chronic social conflict (West Bank) and that of violent war-like conditions (Gaza) [7].

High impact information on Arabs

  • The mutation, which is in full segregation in seven Bedouin families affected by the disorder, converts a negatively charged aspartic acid into a positively charged histidine, in a highly negatively charged domain, and is likely to exert its deleterious effect by disrupting Ca(2+) binding [8].
  • Early-onset and persistent hypocomplementemia in this Bedouin kindred prompted us to evaluate the CFH gene [9].
  • Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel [10].
  • Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus [11].
  • In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15 [12].

Chemical compound and disease context of Arabs


Biological context of Arabs


Associations of Arabs with chemical compounds


Gene context of Arabs

  • We investigated families with iACTHR (n = 4) and AS (n = 6) and a Bedouin family with ACTHR and a known defect of the TSH receptor [21].
  • In a set of nine Bedouin multiplex celiac disease families and one simplex, we genotyped DNA samples at HLA DQA1 and DQB1 [15].
  • The frequencies of predicted UMs (duplication of CYP2D6) were 17.8% (5/28) and 12.8% (6/47) in Ethiopian Jews and Sephardic Jews, respectively, which were higher than that of Yemenite Jews (5.6%, 2/36) and Bedouins (4.0%, 2/50) [22].
  • We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred [23].
  • We performed a genomewide linkage scan combined with homozygosity mapping, using genomic DNA from a large consanguineous Bedouin kindred that included 10 patients who received the diagnosis of HHRH [24].

Analytical, diagnostic and therapeutic context of Arabs


  1. "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. Tieder, M., Modai, D., Shaked, U., Samuel, R., Arie, R., Halabe, A., Maor, J., Weissgarten, J., Averbukh, Z., Cohen, N. N. Engl. J. Med. (1987) [Pubmed]
  2. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Walder, R.Y., Shalev, H., Brennan, T.M., Carmi, R., Elbedour, K., Scott, D.A., Hanauer, A., Mark, A.L., Patil, S., Stone, E.M., Sheffield, V.C. Hum. Mol. Genet. (1997) [Pubmed]
  3. Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. Jones, A., Tzenova, J., Frappier, D., Crumley, M., Roslin, N., Kos, C., Tieder, M., Langman, C., Proesmans, W., Carpenter, T., Rice, A., Anderson, D., Morgan, K., Fujiwara, T., Tenenhouse, H. J. Am. Soc. Nephrol. (2001) [Pubmed]
  4. Desbuquois syndrome in an Arab Bedouin family. al-Gazeli, L.I., Aziz, S.A., Bakalinova, D. Clin. Genet. (1996) [Pubmed]
  5. Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome. Mousa, A.R., Al-Din, A.S., Al-Nassar, K.E., Al-Rifai, K.M., Rudwan, M., Sunba, M.S., Behbehani, K. J. Neurol. Sci. (1986) [Pubmed]
  6. Kenny-Caffey syndrome: an Arab variant? Sabry, M.A., Farag, T.I., Shaltout, A.A., Zaki, M., Al-Mazidi, Z., Abulhassan, S.J., Al-Torki, N., Quishawi, A., Al Awadi, S.A. Clin. Genet. (1999) [Pubmed]
  7. Psychosocial adjustment in middle eastern adolescents: the relative impact of violent vs. non-violent social disorganization. Elbedour, S., Van Slyck, M.R., Stern, M. Community mental health journal. (1998) [Pubmed]
  8. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Lahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., Eldar, M. Am. J. Hum. Genet. (2001) [Pubmed]
  9. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Ying, L., Katz, Y., Schlesinger, M., Carmi, R., Shalev, H., Haider, N., Beck, G., Sheffield, V.C., Landau, D. Am. J. Hum. Genet. (1999) [Pubmed]
  10. Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Scott, D.A., Carmi, R., Elbedour, K., Duyk, G.M., Stone, E.M., Sheffield, V.C. Am. J. Hum. Genet. (1995) [Pubmed]
  11. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Nishimura, D.Y., Searby, C.C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A.B., Lam, B.L., Powell, B.R., Swiderski, R.E., Bugge, K.E., Haider, N.B., Kwitek-Black, A.E., Ying, L., Duhl, D.M., Gorman, S.W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L.G., Jacobson, S.G., Stone, E.M., Sheffield, V.C. Hum. Mol. Genet. (2001) [Pubmed]
  12. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Carmi, R., Rokhlina, T., Kwitek-Black, A.E., Elbedour, K., Nishimura, D., Stone, E.M., Sheffield, V.C. Hum. Mol. Genet. (1995) [Pubmed]
  13. High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. Hershkovitz, E., Leiberman, E., Refetoff, S., Pilpell, D., Phillip, M. Isr. J. Med. Sci. (1995) [Pubmed]
  14. A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. Landau, D., Cohen, D., Shalev, H., Pinsk, V., Yerushalmi, B., Zeigler, M., Birk, O.S. Mol. Genet. Metab. (2004) [Pubmed]
  15. HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. Neuhausen, S.L., Weizman, Z., Camp, N.J., Elbedour, K., Sheffield, V.C., Zone, J.J., Carmi, R. Hum. Immunol. (2002) [Pubmed]
  16. Single nucleotide polymorphism study of IDDM 17 in a Bedouin Arab family. Bao, F., Babu, S.R., Roberts, C.M., Martin, A.K., Gowan, K., Eisenbarth, G.S., Fain, P.R. Ann. N. Y. Acad. Sci. (2003) [Pubmed]
  17. A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. Miura, Y., Hershkovitz, E., Inagaki, A., Parvari, R., Oiso, Y., Phillip, M. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  18. 25-Hydroxycholecalciferol levels in bedouins in the Negev. Shany, S., Hirsh, J., Berlyne, G.M. Am. J. Clin. Nutr. (1976) [Pubmed]
  19. Feto-maternal relationships between vitamin D metabolites in Israeli Bedouins and Jews. Shany, S., Biale, Y., Zuili, I., Yankowitz, N., Berry, J.L., Mawer, E.B. Am. J. Clin. Nutr. (1984) [Pubmed]
  20. Retinol concentration in maternal and cord serum: its relation to birth weight in healthy mother-infant pairs. Gazala, E., Sarov, B., Hershkovitz, E., Edvardson, S., Sklan, D., Katz, M., Friger, M., Gorodischer, R. Early Hum. Dev. (2003) [Pubmed]
  21. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. Sandrini, F., Farmakidis, C., Kirschner, L.S., Wu, S.M., Tullio-Pelet, A., Lyonnet, S., Metzger, D.L., Bourdony, C.J., Tiosano, D., Chan, W.Y., Stratakis, C.A. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  22. Polymorphisms of CYP2C19 and CYP2D6 in Israeli ethnic groups. Luo, H.R., Aloumanis, V., Lin, K.M., Gurwitz, D., Wan, Y.J. American journal of pharmacogenomics : genomics-related research in drug development and clinical practice. (2004) [Pubmed]
  23. Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. Narkis, G., Landau, D., Manor, E., Elbedour, K., Tzemach, A., Fishelson, M., Geiger, D., Ofir, R., Carmi, R., Birk, O.S. Am. J. Med. Genet. A (2004) [Pubmed]
  24. SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis. Bergwitz, C., Roslin, N.M., Tieder, M., Loredo-Osti, J.C., Bastepe, M., Abu-Zahra, H., Frappier, D., Burkett, K., Carpenter, T.O., Anderson, D., Garabedian, M., Sermet, I., Fujiwara, T.M., Morgan, K., Tenenhouse, H.S., Juppner, H. Am. J. Hum. Genet. (2006) [Pubmed]
  25. Modulation of plasma arginine vasopressin during rehydration in the Bedouin goat. Shaham, D., Choshniak, I., Rosenfeld, J., Witenberg, C., Thurau, K., Shkolnik, A. J. Comp. Physiol. B, Biochem. Syst. Environ. Physiol. (1994) [Pubmed]
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