Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter-community variation and founder premutations

American Journal of Medical Genetics

Volumn 119 A, Issue 3, 2003, Pages 273-278

  Segel, Reeval ^a   Silverstein, Shira ^a   Lerer, Israela ^a   Kahana, Esther ^a,b   Meir, Rachel ^a   Sagi, Michal ^a   Zilber, Nelly ^a,c   Korczyn, Amos D ^d   Shapira, Yehuda ^a   Argov, Zohar ^a   Abeliovich, Dvorah ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b BARZILAI MEDICAL CENTER   (Israel)

^c UMR CNRS DGRCST 9930   (Israel)

^d NONE

Author keywords

Ashkenazi Jews; Epidemiology; Expansion mutation; Founder effect; Moroccan; Myotonic dystrophy; Permutation; Yemenite Jews

Indexed keywords

ADULT; ALLELISM; ARTICLE; ASHKENAZI JEW; COMMUNITY CARE; DMPK GENE; EPIDEMIOLOGICAL DATA; FOUNDER EFFECT; GENE MUTATION; GENETIC COMPATIBILITY; GENETIC STABILITY; GENETIC VARIABILITY; HEALTH SURVEY; HUMAN; INCIDENCE; ISRAEL; JEW; MAJOR CLINICAL STUDY; MOROCCO; MUTATION RATE; MYOTONIC DYSTROPHY; ORIENTAL JEW; PLESIOMORPHY; PREMUTATION; PREVALENCE; PRIORITY JOURNAL; RACE DIFFERENCE; SIBLING; YEMENITE JEW;

EID: 10744229523     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20177     Document Type: Article

References (29)

1. Abeliovich D, Lerer I, Pashut-Lavon I, Shmueli E, Raas-Rothschild A, Frydman M. 1993. Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet 52:1175-1181.
2. Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, Chen C, Alleman J, Wormskamp NG, Vooijs M, Buxton J, Johnson K, Smeets HJM, Lennon GG, Carrano AV, Korneluk RG, Wieringa B, de Jong PJ. 1992. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355:548-551.
3. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE. 1992. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808.
4. Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, Williamson R, Johnson K. 1992. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355:547-548.
5. Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE. 1997. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am J Hum Gene 60:103-112.
6. Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT. 1992. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258.
7. Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. 2001. Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study. Am J Hum Genet 68:523-528.
8. Goldberg-Stern H, D'Jaldetti R, Melamed E, Gadoth N. 1994. Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel. Neurology 44:1298-1301.
9. Goldman A, Ramsay M, Jenkins T. 1994. Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J Med Genet 31:37-40.
10. Goldman A, Krause A, Ramsay M, Jenkins T. 1996. Founder effect and prevalence of myotonic dystrophy in South Africans: Molecular studies. Am J Hum Genet 59:445-452.
11. Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ. 1992. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545-546.
12. Harper PS. 1989. Myotonic dystrophy. London and Philadelphia: W.B. Saunders and Co.
13. Imbert G, Kretz C, Johnson K, Mandel JL. 1993. Origin of the expansion mutation in myotonic dystrophy. Nat Genet 4:72-76.
14. Jansen G, Coerwinkel-Driessen M, Nillesen W, Brunner H, Wieringa B. 1993. Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene. Hum Mol Genet 2:333.
15. Kirtzberg G, Kahana E, Korczyn AD. 1992. Myotonic dystrophy (MyD) in Yemenite Jews: A new isolate. Neurology 42(Suppl 3):225.
16. n dinucleotide repeat polymorphisms. Am J Med Genet 52:79-84.
17. Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N. 1996. Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet 4: 3-7.
18. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. 2001. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867.
19. MacMillan JC, Harper PS. 1991. Single-gene neurological disorders in South Wales: An epidemiological study. Ann Neurol 30:411-414.
20. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, Leblond S, Earle-Macdonald J, de Jong PJ, Wieringa B, Korneluk RG. 1992. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255.
21. Mahadevan MS, Foitzik MA, Surh LC, Korneluk RG. 1993. Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics 15:446-448.
22. Mathieu J, De Braekeleer M, Prevost C. 1990. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology 40:839-842.
23. Mor-Cohen R, Magal N, Gadoth N, Shohat T, Shohat M. 1997. Correlation between the incidence of myotonic dystrophy in different groups in Israel and the number of CTG trinucleotide repeats in the myotonin gene. Am J Med Genet 71:156-159.
24. Morton NE. 1982. Outline of genetic epidemiology. Bazel, Switzerland: Karger. pp 69-80.
25. Neville CE, Mahadevan MS, Barcelo JM, Korneluk RG. 1994. High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet 3:45-51.
26. Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonne-Tamir B, Kidd JR, Pakstis AJ, Jenkins T, Kidd KK. 1998. A global haplotype analysis of the myotonic dystrophy locus: Implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am J Hum Genet 62:1389-1402.
27. Yamagata H, Miki T, Nakagawa M, Johnson K, Deka R, Ogihara T. 1996. Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation. Hum Genet 97:145-147.
28. Zerylnick C, Torroni A, Sherman SL, Warren ST. 1995. Normal variation at the myotonic dystrophy locus in global human populations. Am J Hum Genet 56:123-130.
29. Zlotogora J, Bach G, Munnich A. 2000. Molecular basis of mendelian disorders among Jews. Mol Genet Metab 69:169-180.