메뉴 건너뛰기




Volumn 18, Issue 2, 2004, Pages 141-149

Frameshift deletion mechanisms in Egyptian Duchenne and becker muscular dystrophy families

Author keywords

Dystrophin gene; Egyptian population; Frameshift deletions; Multiplex PCR

Indexed keywords

DYSTROPHIN; GENOMIC DNA;

EID: 11444264901     PISSN: 10168478     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (23)

References (46)
  • 1
    • 11444269151 scopus 로고    scopus 로고
    • Molecular diagnosis of deletional mutation in Duchenne and Becker muscular dystrophies using multiplex PCR in Egyptian population
    • Abdel-fattah, M. M., Fahmy, A. F., Aid, S. Z., Hashem, N., and Elhawary, N. A. (2003) Molecular diagnosis of deletional mutation in Duchenne and Becker muscular dystrophies using multiplex PCR in Egyptian population. Egypt. J. Med. Hum. Genet. 4, 12-24.
    • (2003) Egypt. J. Med. Hum. Genet. , vol.4 , pp. 12-24
    • Abdel-fattah, M.M.1    Fahmy, A.F.2    Aid, S.Z.3    Hashem, N.4    Elhawary, N.A.5
  • 3
    • 0032720705 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
    • Barton-Davis, E. R., Cordier, L., Shoturma, D. I., Leland, S. E., and Sweeney, H. L. (1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J. Clin. Invest. 104, 375-381.
    • (1999) J. Clin. Invest. , vol.104 , pp. 375-381
    • Barton-Davis, E.R.1    Cordier, L.2    Shoturma, D.I.3    Leland, S.E.4    Sweeney, H.L.5
  • 4
    • 0024580404 scopus 로고
    • Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies
    • Baumbach, L. L., Chamberlain, J. S., Ward, P. S., Farwell, N. J., and Caskey, C. T. (1989) Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 39, 465-474.
    • (1989) Neurology , vol.39 , pp. 465-474
    • Baumbach, L.L.1    Chamberlain, J.S.2    Ward, P.S.3    Farwell, N.J.4    Caskey, C.T.5
  • 5
    • 11444250983 scopus 로고
    • PCR primers for the dystrophin gene that complement existing ones to detect over 98% of DMD/BMD deletions
    • Beggs, A. H., Koenig, M., Boyce, F. M., and Kunkel, L. M. (1990) PCR primers for the dystrophin gene that complement existing ones to detect over 98% of DMD/BMD deletions. Hum. Genet. 86, 46-48.
    • (1990) Hum. Genet. , vol.86 , pp. 46-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 9
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain, J. S., Gibbs, R. A., Ranier, J. E., Nguyen, P. N., and Caskey, C. T. (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 16, 11141-11156.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 10
    • 0002503692 scopus 로고
    • Multiplex PCR for diagnosis of Duchenne muscular dystrophy
    • Innis, M. A., Gelfand, D. H., Sninsky, J. J., and White, T. J. (eds.) Academic Press, New York
    • Chamberlain, J. S., Gibbs, R. A., Ranier, J. E., Nguyen, P. N., and Caskey, C. T. (1990) Multiplex PCR for diagnosis of Duchenne muscular dystrophy; in PCR Protocols: A Guide to Methods and Applications, Innis, M. A., Gelfand, D. H., Sninsky, J. J., and White, T. J. (eds.), pp. 272-281, Academic Press, New York.
    • (1990) PCR Protocols: A Guide to Methods and Applications , pp. 272-281
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 12
    • 0343396715 scopus 로고    scopus 로고
    • Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients
    • Dincer, P., Topaloglu, H., Ayter, S., Ozguc, M., Tasdemir, H. A., and Renda, Y. (1996) Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients. Brain Dev. 18, 91-94.
    • (1996) Brain Dev. , vol.18 , pp. 91-94
    • Dincer, P.1    Topaloglu, H.2    Ayter, S.3    Ozguc, M.4    Tasdemir, H.A.5    Renda, Y.6
  • 13
    • 0024425851 scopus 로고
    • The Duchenne dystrophy story: From phenotype to gene and potential treatment
    • Dubowitz, V. (1990) The Duchenne dystrophy story: from phenotype to gene and potential treatment. J. Child. Neurol. 4 240-250.
    • (1990) J. Child. Neurol. , vol.4 , pp. 240-250
    • Dubowitz, V.1
  • 14
    • 0034437189 scopus 로고    scopus 로고
    • Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies
    • Effat, L. K., El-Harouni, A. A., Amr, K. S., El-Minisi, T. I., Abdel-Meguid, N., and El-Awady, M. (2000) Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies. Dis. Markers 16, 125-129.
    • (2000) Dis. Markers , vol.16 , pp. 125-129
    • Effat, L.K.1    El-Harouni, A.A.2    Amr, K.S.3    El-Minisi, T.I.4    Abdel-Meguid, N.5    El-Awady, M.6
  • 15
    • 11444270876 scopus 로고    scopus 로고
    • The phenotypic expression of myopathy genes prevalent among Egyptians
    • M.S. Dissertation, Faculty of Medicine, AinShams University, Cairo
    • Elsayed, N. S. (1998) The phenotypic expression of myopathy genes prevalent among Egyptians. M.S. Dissertation, Faculty of Medicine, AinShams University, Cairo.
    • (1998)
    • Elsayed, N.S.1
  • 16
    • 0025815479 scopus 로고
    • Membrane organization of the dystrophin-glycoprotein complex
    • Ervasti, J. M. and Campbell, K. P. (1991) Membrane organization of the dystrophin-glycoprotein complex. Cell 66, 1121-1131.
    • (1991) Cell , vol.66 , pp. 1121-1131
    • Ervasti, J.M.1    Campbell, K.P.2
  • 17
    • 0024430346 scopus 로고
    • Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene
    • Gillard, E. F., Chamberlain, J. S., Murphy, E. G., Duff, C. L., Smith, B., Burghes, A. H. M., Thompson, M. W., et al. (1989) Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am. J. Hum. Genet. 45, 507-520.
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 507-520
    • Gillard, E.F.1    Chamberlain, J.S.2    Murphy, E.G.3    Duff, C.L.4    Smith, B.5    Burghes, A.H.M.6    Thompson, M.W.7
  • 20
    • 11444259241 scopus 로고
    • Medical Genetics Center Al-Ahram Press, Cairo, Egypt
    • Hashem, N. (1982) Preventable aspects of genetic morbility Vol. II, Medical Genetics Center, pp. 320-324, Al-Ahram Press, Cairo, Egypt.
    • (1982) Preventable Aspects of Genetic Morbility , vol.2 , pp. 320-324
    • Hashem, N.1
  • 21
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman, E. P., Brown, R. H., and Kunkel, L. M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.H.2    Kunkel, L.M.3
  • 22
    • 0023906647 scopus 로고
    • Characterization of dystrophin In muscle biopsy specimens from patients with Duchenne or Becker muscular dystrophy
    • Hoffman, E. P., Fischbeck, K. H., Brown, R. H., Johnson, M., Medori, R., Loike, J. D., Harris, J. B., et al. (1988) Characterization of dystrophin In muscle biopsy specimens from patients with Duchenne or Becker muscular dystrophy. N. Engl. J. Med. 318 1363-1368.
    • (1988) N. Engl. J. Med. , vol.318 , pp. 1363-1368
    • Hoffman, E.P.1    Fischbeck, K.H.2    Brown, R.H.3    Johnson, M.4    Medori, R.5    Loike, J.D.6    Harris, J.B.7
  • 23
    • 0028008668 scopus 로고
    • Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family
    • Hoop, R. C., Russo, L. S., Riconda, L. S., Schwartz, L. S., and Hoffman, E. P. (1994) Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family. Am. J. Med. Genet. 49, 323-327.
    • (1994) Am. J. Med. Genet. , vol.49 , pp. 323-327
    • Hoop, R.C.1    Russo, L.S.2    Riconda, L.S.3    Schwartz, L.S.4    Hoffman, E.P.5
  • 24
    • 0025320994 scopus 로고
    • Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype/genotype correlation
    • Hu, X., Ray, P. N., Murphy, E. G., Thompson, M. W., and Worton, R. G. (1990) Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation. Am. J. Hum. Genet. 46, 682-695.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 682-695
    • Hu, X.1    Ray, P.N.2    Murphy, E.G.3    Thompson, M.W.4    Worton, R.G.5
  • 25
    • 0038769897 scopus 로고    scopus 로고
    • Molecular diagnosis of Duchenne muscular dystrophy by polymerase chain reaction and microsatellite analysis
    • Kim, U. K., Chae, J. J., Lee, S. H., Lee, C. C., and Namkoong, Y. (2002) Molecular diagnosis of Duchenne muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol. Cells 13, 385-388.
    • (2002) Mol. Cells , vol.13 , pp. 385-388
    • Kim, U.K.1    Chae, J.J.2    Lee, S.H.3    Lee, C.C.4    Namkoong, Y.5
  • 26
    • 0024466501 scopus 로고
    • The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
    • Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., et al. (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am. J. Hum. Genet. 45, 498-506.
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 498-506
    • Koenig, M.1    Beggs, A.H.2    Moyer, M.3    Scherpf, S.4    Heindrich, K.5    Bettecken, T.6    Meng, G.7
  • 27
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C., and Kunkel, L. M. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50, 509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 28
    • 0023904860 scopus 로고
    • The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
    • Koenig, M., Monaco, A. P., and Kunkel, L. M. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53, 219-226.
    • (1988) Cell , vol.53 , pp. 219-226
    • Koenig, M.1    Monaco, A.P.2    Kunkel, L.M.3
  • 30
    • 0026046262 scopus 로고
    • Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe
    • Matsuo, M., Masumura, T., Nishio, H., Nakajima, T., Kitoh, Y., Takumi, T., Koga, J., and Nakamura, H. (1991) Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe. J. Clin. Invest. 87, 2127-2131.
    • (1991) J. Clin. Invest. , vol.87 , pp. 2127-2131
    • Matsuo, M.1    Masumura, T.2    Nishio, H.3    Nakajima, T.4    Kitoh, Y.5    Takumi, T.6    Koga, J.7    Nakamura, H.8
  • 31
    • 0023130168 scopus 로고
    • DNA microextraction from dried blood spots on filter paper blotters: Potential applications to newborn screening
    • McCabe, E., Huang, S. Z., Seltzer, W. K., and Law, M. L. (1987) DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum. Genet. 75, 213-216.
    • (1987) Hum. Genet. , vol.75 , pp. 213-216
    • McCabe, E.1    Huang, S.Z.2    Seltzer, W.K.3    Law, M.L.4
  • 33
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of DMD locus
    • Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S., Moser, H., and Kunkel, K. L. (1988) An explanation for the phenotypic differences between patients bearing partial deletions of DMD locus. Genomics 2, 90-95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, K.L.5
  • 34
    • 0027258342 scopus 로고
    • Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy
    • Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Minami, R., Nakamura, H., and Matsuo, M. (1993) Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J. Clin. Invest. 91, 1862-1867.
    • (1993) J. Clin. Invest. , vol.91 , pp. 1862-1867
    • Narita, N.1    Nishio, H.2    Kitoh, Y.3    Ishikawa, Y.4    Minami, R.5    Nakamura, H.6    Matsuo, M.7
  • 35
    • 0030256839 scopus 로고    scopus 로고
    • Deletion analysis of the dystrophin gene in patients with Duchenne's muscular dystrophy in Tajikistan
    • Odinokova, O. N., Puzyrev, V. P., Radzhabaliev, Sh. F., and Rakhmonov, R. A. (1996) Deletion analysis of the dystrophin gene in patients with Duchenne's muscular dystrophy in Tajikistan. Genetika 32, 1392-1395.
    • (1996) Genetika , vol.32 , pp. 1392-1395
    • Odinokova, O.N.1    Puzyrev, V.P.2    Radzhabaliev, Sh.F.3    Rakhmonov, R.A.4
  • 36
    • 0028845255 scopus 로고
    • Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: Deletion detection and familial diagnosis
    • Patino, A., Narbona, J., and Garcia-Delgado, M. (1995) Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: deletion detection and familial diagnosis. Am. J. Med. Genet. 59, 182-187.
    • (1995) Am. J. Med. Genet. , vol.59 , pp. 182-187
    • Patino, A.1    Narbona, J.2    Garcia-Delgado, M.3
  • 37
    • 0034624974 scopus 로고    scopus 로고
    • Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides
    • Rando, T. A., Disatnik, M. H., and Zhou, L. Z. (2000) Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides. Proc. Natl. Acad. Sci. USA 97, 5363-5368.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 5363-5368
    • Rando, T.A.1    Disatnik, M.H.2    Zhou, L.Z.3
  • 39
    • 0029186061 scopus 로고
    • Dystrophin, its gene, and the dystrinopathies
    • Roberts, R. G. (1995) Dystrophin, its gene, and the dystrinopathies. Adv. Genet. 33, 177-231.
    • (1995) Adv. Genet. , vol.33 , pp. 177-231
    • Roberts, R.G.1
  • 40
    • 0028084292 scopus 로고
    • Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients
    • Shomrat, R., Gluck, E., Legum, C., and Shiloh, Y. (1994) Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients. Am. J. Med. Genet. 49, 369-373.
    • (1994) Am. J. Med. Genet. , vol.49 , pp. 369-373
    • Shomrat, R.1    Gluck, E.2    Legum, C.3    Shiloh, Y.4
  • 41
    • 0028910144 scopus 로고
    • Characterization of revertant muscle fibers in Duchenne muscular dystrophy using exon-specific monoclonal antibodies against dystrophin
    • Thanh, L. T., Nguyen, M. T., Helliwell, T. R., and Morris, G. E. (1995) Characterization of revertant muscle fibers in Duchenne muscular dystrophy using exon-specific monoclonal antibodies against dystrophin. Am. J. Hum. Genet. 56, 725-731.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 725-731
    • Thanh, L.T.1    Nguyen, M.T.2    Helliwell, T.R.3    Morris, G.E.4
  • 43
    • 0034982292 scopus 로고    scopus 로고
    • Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
    • Wagner, K. R., Hamed, S., and Hadley, D. W. (2001) Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann. Neurol. 49, 706-711.
    • (2001) Ann. Neurol. , vol.49 , pp. 706-711
    • Wagner, K.R.1    Hamed, S.2    Hadley, D.W.3
  • 44
    • 0037327040 scopus 로고    scopus 로고
    • A complex deletion-inversion-deletion event results in a chimeric IL 1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
    • Wheway, J. M., Yau, S. C., Nihalani, V., Ellis, D., Irving, M., Splitt, M., and Roberts, R. G (2003) A complex deletion-inversion-deletion event results in a chimeric IL 1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome. J. Med. Genet. 40, 127-131.
    • (2003) J. Med. Genet. , vol.40 , pp. 127-131
    • Wheway, J.M.1    Yau, S.C.2    Nihalani, V.3    Ellis, D.4    Irving, M.5    Splitt, M.6    Roberts, R.G.7
  • 45
    • 0028833771 scopus 로고
    • Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: Mechanisms of dystrophin production
    • Winnard, A. V., Mendel, J. R., Prior, T. W., Florence, J., and Burghes, A. H. M. (1995) Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am. J. Hum. Genet. 56, 158-166.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 158-166
    • Winnard, A.V.1    Mendel, J.R.2    Prior, T.W.3    Florence, J.4    Burghes, A.H.M.5
  • 46
    • 0025242185 scopus 로고
    • Glycoprotein complex anchoring dystrophin to sarcolemma
    • Yoshida, M. and Ozawa, E. (1990) Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem. 108, 748-752.
    • (1990) J. Biochem. , vol.108 , pp. 748-752
    • Yoshida, M.1    Ozawa, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.