De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia

Human Molecular Genetics

Volumn 7, Issue 7, 1998, Pages 1133-1136

  Klein, Christine ^g   Brin, Mitchell F ^a   De Leon, Deborah ^b   Limborska, Svetlana A ^c   Ivanova Smolenskaya, Irina A ^d   Bressman, Susan B ^b   Friedman, Andrzej ^e   Markova, Elena D ^d   Risch, Neil J ^f   Breakefield, Xandra O ^g   Ozelius, Laurie J ^g  

^a MOUNT SINAI HOSPITAL   (United States)

^b New York State Psychiat Inst and New York Presbyterian Hospital Columbia University Medical Center   (United States)

^c INSTITUTE OF MOLECULAR GENETICS   (Russian Federation)

^d RESEARCH CENTER OF NEUROLOGY   (Russian Federation)

^e MEDICAL UNIVERSITY OF WARSAW   (Poland)

^f STANFORD UNIVERSITY   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; ETHNIC GROUP; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; MUTATION RATE; PRIORITY JOURNAL; TANDEM REPEAT; TORSION DYSTONIA;

ADULT; BASE SEQUENCE; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTONIA MUSCULORUM DEFORMANS; ETHNIC GROUPS; FEMALE; HUMANS; JEWS; MALE; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PENNSYLVANIA; RUSSIA; SEQUENCE DELETION; SWITZERLAND;

EID: 7144256520     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1133     Document Type: Article

References (22)

1. Fahn, S., Marsden, C.D. and Calne, D.B. (1986) Classification and investigation of dystonia. In Marsden, C.D. and Fahn, S. (eds), Movement Disorders 2. Butterworths, London, pp. 332-358.
2. Bressman, S.B., de Leon, D., Kramer, P.L., Ozelius, L.J., Brin, M.F., Greene, P.E., Fahn, S., Breakefield, X.O. and Risch, N.J. (1994) Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol., 36, 771-777.
3. Bressman, S.B., de Leon, D., Brin, M.F., Risch, N., Burke, R.E., Greene, P.E., Shale, H. and Fahn, S. (1989) Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann. Neurol., 26, 612-620.
4. Risch, N.J., Bressman, S.B., de Leon, D., Brin, M.F., Burke, R.E., Greene, P.E., Shale, H., Claus, E.B., Cupples, L.A. and Fahn, S. (1990) Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet., 46, 533-538.
5. Zeman, W. and Dyken, P. (1967) Dystonia musculorum deformans: clinical, genetic and pathoanatomical studies. Psychiatr. Neurol. Neurochir., 70, 77-121.
6. Zilber, N., Korczyn, A.D., Kahana, E., Fried, K. and Alter, M. (1984) Inheritance of idiopathic torsion dystonia among Jews. J. Med. Genet., 21, 13-20.
7. Eldridge, R. (1970) The torsion dystonia: literature review on genetic and clinical studies. Neurology, 20, 1-78.
8. Risch, N.J., de Leon, D., Ozelius, L., Kramer, P., Almasy, L., Singer, B., Fahn, S., Breakefield, X. and Bressman, S. (1995) Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet., 9, 152-159.
9. Ozelius, L.J., Kramer, P.L., de Leon, D., Risch, N., Bressman, S.B., Schuback, D.E., Brin, M.F., Kwiatkowski, D.J., Burke, R.E., Gusella, J.F. and Breakefield, X.O. (1992) Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am. J. Hum. Genet., 50, 619-628.
10. Ozelius, L., Kramer, P.L., Moskowitz, C.B., Kwiatkowski, D.J., Brin, M.F., Bressman, S.B., Schuback, D.E., Falk, C.T., Risch, N., de Leon, D., Burke, R.E., Haines, J., Gusella, J.F., Fahn, S. and Breakefield, X.O. (1989) Human gene for torsion dystonia located on chromosome 9q32-34. Neuron, 2, 1427-1434.
11. Kramer, P.L., Heiman, G.A., Gasser, T., Ozelius, L.J., de Leon, D., Brin, M.F., Burke, R.E., Hewett, J., Hunt, A.L., Moskowitz, C., Nygaard, T.G., Wilhelmsen, K.C., Fahn, S., Breakefield, X.O., Risch, N.J. and Bressman, S.B. (1994) The DYT1 gene on 9q34 is reponsible for most cases of early limb-onset idiopathic torsion dystonia (ITD) in non-Jews. Am. J. Hum. Genet., 55, 468-475.
12. Ozelius, L.J., Hewett, J.W., Page, C.E., Bressman, S.B., Kramer, P.L., Shalish, C., de Leon, D., Brin, M.F., Raymond, D., Corey, D.P., Fahn, S., Risch, N.J., Buckler, A.J., Gusella, J.F. and Breakefield, X.O. (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet., 17, 40-48.
13. Almasy, L., Bressman, S.B., Raymond, D., Kramer, P.L., Greene, P.E., Heiman, G.A., Ford, B., Yount, J., de Leon, D., Chouinard, S., Saunders-Pullman, R., Brin, M.F., Kapoor, R.P., Jones, A.C., Shen, H., Fahn, S., Risch, N.J. and Nygaard, T.G. (1997) Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann. Neurol., 42, 670-673.
14. Ozelius, L.J., Kwiatkowski, D.J., Schuback, D.E., Breakefield, X.O., Wexler, N.S., Gusella, J.F. and Haines J.L. (1992) A genetic linkage map of human chromosome 9q. Genomics, 14, 715-720.
15. Ozelius, L.J., Hewett, J., Kramer, P., Bressman, S.B., Shalish C., de Leon, D., Rutter, M., Risch, N., Brin, M.F., Markova, E.D., Limborska, S.A., Ivanova-Smolenskaya, I.A., McCormick, M.K., Fahn, S., Buckler, A.J., Gusella, J.F. and Breakefield, X.O. (1997) Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res., 7,483-494.
16. Grosson, C.L., Esteban, J., McKenna-Yasek, D., Gusella, J.F. and Brown, R.H. (1995) Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neurol. Disord., 6, 27-31.
17. Bellus, G.A., Hefferon, T.W., Ortiz de Luna, R.I., Hecht, J.T., Horton, W.A., Machado, M., Kaitila, I., McIntosh, I. and Francomano, C.A. (1995) Achondroplasia is defined by recurrent G380 mutations of FGFR3. Am. J. Hum. Genet., 56, 368-373.
18. Watkins, H., Thierfelder, L., Anan, R., Jarcho, J., Matsumori, A., McKenna, W., Seidman, J.G. and Seidman, C.E. (1993) Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophie cardiomyopathy. Am. J. Hum. Genet., 53, 1180-1185.
19. Cooper, D.N. and Youssoufian, H. (1988) The CpG dinucleotide and human genetic disease. Hum. Genet., 78, 151-155.
20. Paulson, H.L, and Fishbeck, K.H. (1996) Trinucleotide repeats in neurogenetic disorders. Annu. Rev. Neurosci., 19, 79-107.
21. Bressman, S.B., Hunt, A.L., Heiman, O.A., Brin, M.F., Burke, R.E., Fahn, S., Trugman, J.M., de Leon, D., Kramer, P.I., Wilhelmsen, K.C. and Nygaard, T.G. (1994) Exclusion of the DJT1 locus in a non-Jewish family with early-onset dystonia. Mov. Disord., 9, 626-632.
22. v Deimling, A., Bender, B., Louis, D.N. and Wiestler, O.D. (1993) A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas. Neuropathol. Appl. Neurobiol., 19, 524-529.