메뉴 건너뛰기




Volumn 128, Issue 5, 2010, Pages 473-479

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel

Author keywords

[No Author keywords available]

Indexed keywords

ARAB; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL ADRENAL HYPERPLASIA; CYSTIC FIBROSIS; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; ISRAEL; LEBANON; MAJOR CLINICAL STUDY; MOSLEM; PHENYLKETONURIA; PRIORITY JOURNAL; REVIEW; THALASSEMIA; ALBINISM; ATAXIA TELANGIECTASIA; BARDET BIEDL SYNDROME; CEREBROTENDINOUS XANTHOMATOSIS; EPIDERMOLYSIS BULLOSA; GENETIC DISORDER; GENETICS; GLOBOID CELL LEUKODYSTROPHY; HURLER SYNDROME; HYPOPARATHYROIDISM; MAPLE SYRUP URINE DISEASE; MENTAL DEFICIENCY; METACHROMATIC LEUKODYSTROPHY; MUTATION; RECESSIVE GENE; RELIGION;

EID: 78049446344     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0890-8     Document Type: Review
Times cited : (27)

References (36)
  • 1
    • 77951601905 scopus 로고    scopus 로고
    • Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: The power of homozygosity mapping
    • 1:CAS:528:DC%2BC3cXntlWktrY%3D 10.1136/jmg.2009.070755 19858128 Epub 2009 Oct 26
    • L Abu Safieh MA Aldahmesh H Shamseldin M Hashem R Shaheen H Alkuraya SA Al Hazzaa A Al-Rajhi FS Alkuraya 2010 Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping J Med Genet 47 236 241 1:CAS:528:DC%2BC3cXntlWktrY%3D 10.1136/jmg.2009.070755 19858128 Epub 2009 Oct 26
    • (2010) J Med Genet , vol.47 , pp. 236-241
    • Abu Safieh, L.1    Aldahmesh, M.A.2    Shamseldin, H.3    Hashem, M.4    Shaheen, R.5    Alkuraya, H.6    Al Hazzaa, S.A.7    Al-Rajhi, A.8    Alkuraya, F.S.9
  • 2
    • 77951870392 scopus 로고    scopus 로고
    • Mutations of a country: A mutation review of single gene disorders in the United Arab Emirates (UAE)
    • 1:CAS:528:DC%2BC3cXnt1CjtL0%3D 10.1002/humu.21232 20437613
    • L Al-Gazali BR Ali 2010 Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE) Hum Mutat 31 505 520 1:CAS:528:DC%2BC3cXnt1CjtL0%3D 10.1002/humu.21232 20437613
    • (2010) Hum Mutat , vol.31 , pp. 505-520
    • Al-Gazali, L.1    Ali, B.R.2
  • 3
    • 0027379866 scopus 로고
    • Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area
    • 1:CAS:528:DyaK2cXhtVCjt74%3D 8328452
    • G Bach SM Moskowitz PT Tieu A Matynia EF Neufeld 1993 Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area Am J Hum Genet 53 330 338 1:CAS:528:DyaK2cXhtVCjt74%3D 8328452
    • (1993) Am J Hum Genet , vol.53 , pp. 330-338
    • Bach, G.1    Moskowitz, S.M.2    Tieu, P.T.3    Matynia, A.4    Neufeld, E.F.5
  • 4
    • 0035032399 scopus 로고    scopus 로고
    • Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and Mon-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
    • DOI 10.1002/humu.1115
    • R Bargal N Avidan T Olender E Ben Asher M Zeigler A Raas-Rothschild A Frumkin O Ben-Yoseph Y Friedlender D Lancet G Bach 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population Hum Mutat 17 397 402 1:CAS:528:DC%2BD3MXjvVCgu7k%3D 10.1002/humu.1115 11317355 (Pubitemid 32381674)
    • (2001) Human Mutation , vol.17 , Issue.5 , pp. 397-402
    • Bargal, R.1    Avidan, N.2    Olender, T.3    Asher, E.B.4    Zeigler, M.5    Raas-Rothschild, A.6    Frumkin, A.7    Ben-Yoseph, O.8    Friedlender, Y.9    Lancet, D.10    Bach, G.11
  • 5
    • 75749149827 scopus 로고    scopus 로고
    • Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds
    • 10.1097/IJG.0b013e3181a98b6f 19593207
    • U Bar-Yosef J Levy K Elbedour R Ofir R Carmi OS Birk 2010 Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds J Glaucoma 19 35 38 10.1097/IJG.0b013e3181a98b6f 19593207
    • (2010) J Glaucoma , vol.19 , pp. 35-38
    • Bar-Yosef, U.1    Levy, J.2    Elbedour, K.3    Ofir, R.4    Carmi, R.5    Birk, O.S.6
  • 6
    • 33846273129 scopus 로고    scopus 로고
    • Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
    • DOI 10.1038/sj.ejhg.5201750, PII 5201750
    • L Basel-Vanagaite E Taub GJ Halpern V Drasinover N Magal B Davidov J Zlotogora M Shohat 2007 Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel Eur J Hum Genet 15 250 253 1:CAS:528:DC%2BD2sXmt1OrtA%3D%3D 10.1038/sj.ejhg.5201750 17149387 (Epub 2006 Dec 6) (Pubitemid 46111866)
    • (2007) European Journal of Human Genetics , vol.15 , Issue.2 , pp. 250-253
    • Basel-Vanagaite, L.1    Taub, E.2    Halpern, G.J.3    Drasinover, V.4    Magal, N.5    Davidov, B.6    Zlotogora, J.7    Shohat, M.8
  • 7
    • 0034639693 scopus 로고    scopus 로고
    • Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    • 1:CAS:528:DC%2BD3cXhsVOjtbY%3D 10.1093/hmg/9.3.367 10655546
    • BA Bejjani DW Stockton RA Lewis KF Tomey DK Dueker M Jabak WF Astle JR Lupski 2000 Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus Hum Mol Genet 9 367 374 1:CAS:528:DC%2BD3cXhsVOjtbY%3D 10.1093/hmg/9.3.367 10655546
    • (2000) Hum Mol Genet , vol.9 , pp. 367-374
    • Bejjani, B.A.1    Stockton, D.W.2    Lewis, R.A.3    Tomey, K.F.4    Dueker, D.K.5    Jabak, M.6    Astle, W.F.7    Lupski, J.R.8
  • 8
    • 76549106642 scopus 로고    scopus 로고
    • Consanguinity, human evolution and complex diseases
    • 1:CAS:528:DC%2BC3cXhs12mtL8%3D 10.1073/pnas.0906079106 19805052 (Epub 2009 Sep 23)
    • AH Bittles M Black 2010 Consanguinity, human evolution and complex diseases PNAS 107 Suppl 1 1779 1786 1:CAS:528:DC%2BC3cXhs12mtL8%3D 10.1073/pnas.0906079106 19805052 (Epub 2009 Sep 23)
    • (2010) PNAS , vol.107 , Issue.SUPPL. 1 , pp. 1779-1786
    • Bittles, A.H.1    Black, M.2
  • 12
    • 33751311301 scopus 로고    scopus 로고
    • Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy
    • DOI 10.1038/sj.ejhg.5201691, PII 5201691
    • D Ducroq S Shalev A Habib A Munnich J Kaplan JM Rozet 2006 Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy Eur J Hum Genet 14 1269 1273 1:CAS:528:DC%2BD28Xht1aku7jL 10.1038/sj.ejhg.5201691 16896346 (Epub 2006 Aug 9) (Pubitemid 44804033)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.12 , pp. 1269-1273
    • Ducroq, D.1    Shalev, S.2    Habib, A.3    Munnich, A.4    Kaplan, J.5    Rozet, J.-M.6
  • 13
    • 34247105786 scopus 로고    scopus 로고
    • Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community
    • DOI 10.1097/GIM.0b013e318031c7de, PII 0012581720070300000005
    • Y Frishberg Z Ben-Neriah M Suvanto C Rinat M Mannikko S Feinstein R Becker-Cohen H Jalanko J Zlotogora M Kestila 2007 Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community Genet Med 9 180 184 1:CAS:528: DC%2BD2sXjvVKju7g%3D 10.1097/GIM.0b013e318031c7de 17413422 (Pubitemid 46597715)
    • (2007) Genetics in Medicine , vol.9 , Issue.3 , pp. 180-184
    • Frishberg, Y.1    Ben-Neriah, Z.2    Suvanto, M.3    Rinat, C.4    Mannikko, M.5    Feinstein, S.6    Becker-Cohen, R.7    Jalanko, H.8    Zlotogora, J.9    Kestila, M.10
  • 15
    • 0027296961 scopus 로고
    • An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
    • 1:CAS:528:DyaK2cXhvVyksbg%3D 10.1002/humu.1380020405 8104633
    • JS Harvey PV Nelson WF Carey EF Robertson CP Morris 1993 An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy Hum Mutat 2 261 267 1:CAS:528:DyaK2cXhvVyksbg%3D 10.1002/humu.1380020405 8104633
    • (1993) Hum Mutat , vol.2 , pp. 261-267
    • Harvey, J.S.1    Nelson, P.V.2    Carey, W.F.3    Robertson, E.F.4    Morris, C.P.5
  • 16
    • 0028794623 scopus 로고
    • Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area
    • 1:CAS:528:DyaK2MXktlWrsbk%3D 7825603
    • U Heinisch J Zlotogora S Kafert V Gieselmann 1995 Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area Am J Hum Genet 56 51 57 1:CAS:528:DyaK2MXktlWrsbk%3D 7825603
    • (1995) Am J Hum Genet , vol.56 , pp. 51-57
    • Heinisch, U.1    Zlotogora, J.2    Kafert, S.3    Gieselmann, V.4
  • 18
    • 0033848442 scopus 로고    scopus 로고
    • Trends in the frequencies of consanguineous marriages in the Israeli Arab community
    • 1:STN:280:DC%2BD3cvltVWmug%3D%3D 10.1034/j.1399-0004.2000.580203.x 11005142
    • L Jaber GJ Halpern T Shohat 2000 Trends in the frequencies of consanguineous marriages in the Israeli Arab community Clin Genet 58 106 110 1:STN:280:DC%2BD3cvltVWmug%3D%3D 10.1034/j.1399-0004.2000.580203.x 11005142
    • (2000) Clin Genet , vol.58 , pp. 106-110
    • Jaber, L.1    Halpern, G.J.2    Shohat, T.3
  • 19
    • 0035475115 scopus 로고    scopus 로고
    • Exploring the molecular basis of Bardet-Biedl syndrome
    • Kastanis N, Lupski JR, Beales PL (2001) Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet 10:2293-2299
    • (2001) Hum Mol Genet , vol.10 , pp. 2293-2299
    • Kastanis, N.1    Lupski, J.R.2    Beales, P.L.3
  • 23
    • 77955565911 scopus 로고    scopus 로고
    • Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans
    • Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T (2010) Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. J Med Genet 47:533-537
    • (2010) J Med Genet , vol.47 , pp. 533-537
    • Nevet, M.J.1    Shalev, S.A.2    Zlotogora, J.3    Mazzawi, N.4    Ben-Yosef, T.5
  • 26
    • 0030058576 scopus 로고    scopus 로고
    • Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel
    • DOI 10.1007/BF02185759
    • MA Rafi P Luzi J Zlotogora DA Wenger 1996 Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel Hum Genet 97 304 308 1:CAS:528:DyaK28Xit12ks70%3D 10.1007/BF02185759 8786069 (Pubitemid 26057027)
    • (1996) Human Genetics , vol.97 , Issue.3 , pp. 304-308
    • Rafi, M.A.1    Luzi, P.2    Zlotogora, J.3    Wenger, D.A.4
  • 27
    • 77951924896 scopus 로고    scopus 로고
    • Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families
    • 1:CAS:528:DC%2BC3cXksVKgt7g%3D 10.1111/j.1469-1809.2009.00559.x 20070851 (Epub 2010 Jan 8)
    • O Reish M Slatkin D Chapman-Shimshoni A Elizur B Chioza V Castleman HM Mitchison 2010 Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families Ann Hum Genet 74 117 125 1:CAS:528:DC%2BC3cXksVKgt7g%3D 10.1111/j.1469-1809.2009.00559.x 20070851 (Epub 2010 Jan 8)
    • (2010) Ann Hum Genet , vol.74 , pp. 117-125
    • Reish, O.1    Slatkin, M.2    Chapman-Shimshoni, D.3    Elizur, A.4    Chioza, B.5    Castleman, V.6    Mitchison, H.M.7
  • 29
    • 0003498742 scopus 로고    scopus 로고
    • The Central Bureau of Statistics, Jerusalem
    • Statistical abstracts of Israel. The Central Bureau of Statistics, Jerusalem (2009)
    • (2009) Statistical Abstracts of Israel
  • 30
    • 0035984454 scopus 로고    scopus 로고
    • Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze
    • DOI 10.1080/03014460110100928
    • R Vardi-Saliternik Y Friedlander T Cohen 2002 Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze Ann Hum Biol 29 422 431 1:STN:280:DC%2BD38vgs1ertw%3D%3D 10.1080/03014460110100928 12160475 (Pubitemid 34842116)
    • (2002) Annals of Human Biology , vol.29 , Issue.4 , pp. 422-431
    • Vardi-Saliternik, R.1    Friedlander, Y.2    Cohen, T.3
  • 32
    • 33847180200 scopus 로고    scopus 로고
    • Multiple mutations responsible for frequent genetic diseases in isolated populations
    • 1:CAS:528:DC%2BD2sXhvF2isrY%3D 10.1038/sj.ejhg.5201760 17213840 Epub January 10
    • J Zlotogora 2007 Multiple mutations responsible for frequent genetic diseases in isolated populations Eur J Hum Genet 15 272 278 1:CAS:528: DC%2BD2sXhvF2isrY%3D 10.1038/sj.ejhg.5201760 17213840 Epub January 10
    • (2007) Eur J Hum Genet , vol.15 , pp. 272-278
    • Zlotogora, J.1
  • 33
    • 0027936724 scopus 로고
    • A single origin for the most common mutation causing late infantile metachromatic leukodystropy
    • 1:STN:280:DyaK2M7hsFSjsw%3D%3D 10.1136/jmg.31.9.672 7815434
    • J Zlotogora Y Furman-Shaharabani A Harris ML Barth K von Figura V Gieselmann 1994 A single origin for the most common mutation causing late infantile metachromatic leukodystropy J Med Genet 31 672 674 1:STN:280:DyaK2M7hsFSjsw%3D%3D 10.1136/jmg.31.9.672 7815434
    • (1994) J Med Genet , vol.31 , pp. 672-674
    • Zlotogora, J.1    Furman-Shaharabani, Y.2    Harris, A.3    Barth, M.L.4    Von Figura, K.5    Gieselmann, V.6
  • 34
    • 34047247337 scopus 로고    scopus 로고
    • The fate of 12 recessive mutations in a single village
    • DOI 10.1111/j.1469-1809.2006.00308.x
    • J Zlotogora Y Hujerat S Barges SA Shalev A Chakravarti 2007 The fate of 12 recessive mutations in a single village Ann Hum Genet 71 202 208 1:CAS:528:DC%2BD2sXlt1aitbc%3D 10.1111/j.1469-1809.2006.00308.x 17331080 (Pubitemid 46656499)
    • (2007) Annals of Human Genetics , vol.71 , Issue.2 , pp. 202-208
    • Zlotogora, J.1    Hujerat, Y.2    Barges, S.3    Shalev, S.A.4    Chakravarti, A.5
  • 35
    • 34948900840 scopus 로고    scopus 로고
    • Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli national genetic database
    • DOI 10.1002/humu.20551
    • J Zlotogora S van Baal GP Patrinos 2007 Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database Hum Mut 28 944 949 1:CAS:528:DC%2BD2sXhtlWjs7vP 10.1002/humu.20551 17492749 (Pubitemid 47519386)
    • (2007) Human Mutation , vol.28 , Issue.10 , pp. 944-949
    • Zlotogora, J.1    Van Baal, S.2    Patrinos, G.P.3
  • 36
    • 67349124099 scopus 로고    scopus 로고
    • A targeted population carrier screening program for severe and frequent genetic diseases in Israel
    • 10.1038/ejhg.2008.241 19107146 Epub 2008 Dec 24
    • J Zlotogora R Carmi B Lev SA Shalev 2009 A targeted population carrier screening program for severe and frequent genetic diseases in Israel Eur J Hum Genet 17 591 597 10.1038/ejhg.2008.241 19107146 Epub 2008 Dec 24
    • (2009) Eur J Hum Genet , vol.17 , pp. 591-597
    • Zlotogora, J.1    Carmi, R.2    Lev, B.3    Shalev, S.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.