Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations

Molecular Vision

Volumn 21, Issue , 2015, Pages 783-792

  Sharon, Dror ^a   Banin, Eyal ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ANTERIOR EYE SEGMENT; ARAB; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; COHORT ANALYSIS; CONSANGUINITY; CONTROLLED STUDY; DARK ADAPTATION; ELECTRORETINOGRAPHY; FAMILY STUDY; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; HOMOZYGOSITY; HUMAN; ISRAEL; JEW; MAJOR CLINICAL STUDY; MUSLIM; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; PHOTOPIC VISION; POPULATION RESEARCH; POPULATION SIZE; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; TERTIARY HEALTH CARE; VISUAL ACUITY; X CHROMOSOMAL INHERITANCE; AGED; CHILD; FEMALE; FOUNDER EFFECT; GENETICS; INFANT; INHERITANCE; MALE; MIDDLE AGED; MUTATION; NEWBORN; PRESCHOOL CHILD; RECESSIVE GENE; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; INHERITANCE PATTERNS; ISRAEL; MALE; MIDDLE AGED; MUTATION; PREVALENCE; RETINITIS PIGMENTOSA;

EID: 84937579813     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (48)

1. Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Causes and consequences of inherited cone disorders. Prog Retin Eye Res 2014; 42:1-26. [PMID: 24857951].
2. Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 2010; 29:335-75. [PMID: 20362068].
3. Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002; 11:1219-27. [PMID: 12015282].
4. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006; 368:1795-809. [PMID: 17113430].
5. den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008; 27:391-419. [PMID: 18632300].
6. Kennan A, Aherne A, Humphries P. Light in retinitis pigmentosa. Trends Genet 2005; 21:103-10. [PMID: 15661356].
7. Rosenberg T. Epidemiology of hereditary ocular disorders. Dev Ophthalmol 2003; 37:16-33. [PMID: 12876827].
8. Cohen T, Vardi-Saliternik R, Friedlander Y. Consanguinity, intracommunity and intercommunity marriages in a population sample of Israeli Jews. Ann Hum Biol 2004; 31:38-48. [PMID: 14742164].
9. Vardi-Saliternik R, Friedlander Y, Cohen T. Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze. Ann Hum Biol 2002; 29:422-31. [PMID: 12160475].
10. Charrow J. Ashkenazi Jewish genetic disorders. Fam Cancer 2004; 3:201-6. [PMID: 15516842].
11. Myerowitz R, Costigan FC. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem 1988; 263:18587-9. [PMID: 2848800].
12. Zimran A, Gelbart T, Beutler E. Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. Am J Hum Genet 1990; 46:902-5. [PMID: 1971142].
13. Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med 2003; 348:1664-70. [PMID: 12711741].
14. Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003; 40:767-72. [PMID: 14569126].
15. Stone EM, Luo X, Heon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, Cideciyan AV, Jacobson SG. Autosomal Recessive Retinitis Pigmentosa caused by Mutations in the MAK Gene. Invest Ophthalmol Vis Sci 2011; 52:9665-73. [PMID: 22110072].
16. Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am J Hum Genet 2011; 88:207-15. [PMID: 21295282].
17. Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Pericak-Vance MA. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet 2011; 88:201-6. [PMID: 21295283].
18. Behar DM, Yunusbayev B, Metspalu M, Metspalu E, Rosset S, Parik J, Rootsi S, Chaubey G, Kutuev I, Yudkovsky G, Khusnutdinova EK, Balanovsky O, Semino O, Pereira L, Comas D, Gurwitz D, Bonne-Tamir B, Parfitt T, Hammer MF, Skorecki K, Villems R. The genome-wide structure of the Jewish people. Nature 2010; 466:238-42. [PMID: 20531471].
19. Ostrer H. A genetic profile of contemporary Jewish populations. Nat Rev Genet 2001; 2:891-8. [PMID: 11715044].
20. Behar DM, Hammer MF, Garrigan D, Villems R, Bonne-Tamir B, Richards M, Gurwitz D, Rosengarten D, Kaplan M, Della Pergola S, Quintana-Murci L, Skorecki K. MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population. Eur J Hum Genet 2004; 12:355-64. [PMID: 14722586].
21. Rodríguez-Ezpeleta N, Alvarez-Busto J, Imaz L, Regueiro M, Azcarate MN, Bilbao R, Iriondo M, Gil A, Estonba A, Aransay AM. High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations. Hum Genet 2010; 128:113-7. [PMID: 20443121].
22. Atzmon G, Hao L, Pe’er I, Velez C, Pearlman A, Palamara PF, Morrow B, Friedman E, Oddoux C, Burns E, Ostrer H. Abraham’s children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry. Am J Hum Genet 2010; 86:850-9. [PMID: 20560205].
23. Kopelman NM, Stone L, Wang C, Gefel D, Feldman MW, Hillel J, Rosenberg NA. Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations. BMC Genet 2009; 10:80-[PMID: 19995433].
24. Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. BMJ 2006; 333:831-4. [PMID: 17053236].
25. Bittles AH, Black ML. Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci USA 2010; 107:Suppl 11779-86. [PMID: 19805052].
26. Jaber L, Bailey-Wilson JE, Haj-Yehia M, Hernandez J, Shohat M. Consanguineous matings in an Israeli-Arab community. Arch Pediatr Adolesc Med 1994; 148:412-5. [PMID: 8148943].
27. Zlotogora J. The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel. Hum Genet 2010; 128:473-9. [PMID: 20852892].
28. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995; 4:9-13. [PMID: 7711739].
29. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001; 10:865-74. [PMID: 11285252].
30. Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet 2004; 75:475-84. [PMID: 15258860].
31. Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA 2006; 103:6287-92. [PMID: 16606853].
32. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 1984; 97:357-65. [PMID: 6702974].
33. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 2002; 233:1-34. [PMID: 11921605].
34. Grøndahl J. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 1987; 31:255-64. [PMID: 3594933].
35. Bundey S, Crews SJ. A study of retinitis pigmentosa in the city of Birmingham. II Clinical and genetic heterogeneity. J Med Genet 1984; 21:421-8. [PMID: 6512830].
36. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet 1987; 24:584-8. [PMID: 3500313].
37. Merin S, Auerbach E. Retinitis pigmentosa. Surv Ophthalmol 1976; 20:303-46. [PMID: 817406].
38. Rosner M, Hefetz L, Abraham FA. The prevalence of retinitis pigmentosa and congenital night blindness in Israel. Am J Ophthalmol 1993; 116:373-4. [PMID: 8357065].
39. Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe’er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet 2010; 87:382-91. [PMID: 20705279].
40. Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. PLoS ONE 2012; 7:e51566-[PMID: 23251578].
41. Zlotogora J. Autosomal recessive diseases among Palestinian Arabs. J Med Genet 1997; 34:765-6. [PMID: 9321766].
42. Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL. Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa. PLoS ONE 2015; 9:e92479-[PMID: 24651477].
43. Venturini G, Koskiniemi-Kuendig H, Harper S, Berson EL, Rivolta C. Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. Genet Med 2015; 17:285-90. [PMID: 25255364].
44. Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci USA 2011; 108:E569-76. [PMID: 21825139].
45. Fishman GA. Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol 1978; 96:822-6. [PMID: 655919].
46. Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Senechal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol 2013; 20:13-25. [PMID: 23350551].
47. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol 1982; 66:405-16. [PMID: 7093178].
48. Hu DN. Genetic aspects of retinitis pigmentosa in China. Am J Med Genet 1982; 12:51-6. [PMID: 7091196].