A novel splice site mutation in a Becker muscular dystrophy patient

Journal of Medical Genetics

Volumn 33, Issue 4, 1996, Pages 324-327

  Bartolo, Claire ^a   Papp, Audrey C ^a   Snyder, Pamela J ^a   Sedra, Mary S ^a   Burghes, Arthur H M ^a   Hall, Colin D ^b   Mendell, Jerry R ^a   Prior, Thomas W ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Becker muscular dystrophy; Splice site mutation

Indexed keywords

COMPLEMENTARY DNA; DINUCLEOTIDE; DYSTROPHIN; MESSENGER RNA;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CONSENSUS SEQUENCE; CONTROLLED STUDY; EXON; GENE MUTATION; HUMAN; HUMAN TISSUE; INTRON; MALE; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; RNA PROCESSING; RNA SPLICING;

EID: 0029881003     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.4.324     Document Type: Article

References (20)

1. Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988;318:1363-8.
2. Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BgIII exon-containing fragment maps, meiotic and mitotic origin of mutations. Am J Hum Genet 1988;43:620-9.
3. Liechti-Gallati S, Koenig M, Kunkel LM, et al. Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum Genet 1989;81:343-8.
4. Gillard EF, Chamberlain JS, Murphy EG, et al. Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet 1989;45:507-20.
5. Hu X, Ray PN, Murphy EG, Thompson MW, Worton RG. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin and phenotype/genotype correlation. Am J Hum Genet 1990;46:682-95.
6. Roberts RG, Gardner RJ, Bobrow M. Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat 1994;4:1-11.
7. Roberts RG, Passos-Bueno MR, Bobrow M, Vainzof M, Zatz M. Point mutation in a Becker muscular dystrophy patient. Hum Mol Genet 1992;2:75-7.
8. -1 to T) in a 5′ splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. Am J Hum Genet 1994;54:53-61.
9. Wilton SD, Johnsen RD, Pedretti JR, Laing NG. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation. Am J Med Genet 1993;46:563-9.
10. Padgett RA, Grabowski PJ, Konarska MA, Seiler S, Sharp PA. Splicing of messenger RNA precursors. Annu Rev Biochem 1986;55:1119-50.
11. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
12. Prior TW, Bartolo C, Pearl DK, et al. Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 1995;57:22-33.
13. Burrow K, Coovert DD, Klein CJ, et al. Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. Neurology 1991;41:662-6.
14. Klein CJ, Coovert DD, Bulman DE, Ray PN, Mendell JR, Burghes AHM. Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin positive fibers. Am J Hum Genet 1992;50:950-9.
15. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992;12:301-6.
16. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988;53:219-28.
17. Breathnach R, Chambon P. Organization and expression of eukaryotic split genes coding for proteins. Annu Rev Biochem 1981;50:349-83.
18. Mount SM. A catalogue of splice junction sequences. Nucleic Acids Res 1982;10:459-72.
19. Jackson IJ. A reappraisal of non-consensus mRNA splice-sites. Nucleic Acids Res 1991;19:3795-8.
20. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987;15:7155-73.