Splicing mutations in DMD/BMD detected by RT-PCR/PTT: Detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

Journal of Medical Genetics

Volumn 33, Issue 11, 1996, Pages 935-939

  Roest, Pauline A M ^a   Bout, Mattie ^a   Van Der Tuijn, Astric C ^a   Ginjaar, Ieke B ^b   Bakker, Egbert ^b   Hogervorst, Frans B L ^b   Van Ommen, Gert Jan B ^a   Den Dunnen, Johan T ^b  

^a LEIDEN UNIVERSITY   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Becker muscular dystrophy; Duchenne muscular dystrophy; Protein truncation test

Indexed keywords

CYSTEINE; DYSTROPHIN; MESSENGER RNA;

ADOLESCENT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CELL DIFFERENTIATION; CHILD; CLINICAL ARTICLE; CODING; CODON; CONSENSUS SEQUENCE; CONTROLLED STUDY; DONOR SITE; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAMILY; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MALE; NUCLEIC ACID BASE SUBSTITUTION; OPEN READING FRAME; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SARCOLEMMA; SPLICEOSOME;

EID: 0029829584     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.11.935     Document Type: Article

References (15)

1. Monaco AP, Bertelson CJ, Middlesworth W, et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 1985;316:842-5.
2. Monaco AP, Bertelson CJ, Liechti-Galatti S, Moser H, Kunkel LM. An explanation for the phenotype differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
3. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
4. den Dunnen JT, Grootscholten PM, Bakker E, et al Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989;45:835-47.
5. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-8.
6. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;23:11141-56.
7. Saad FA, Vitiello L, Merlini L, Mostacciuolo ML, Oliviero S, Danieli GA. A 3′ consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions. Hum Mol Genet 1992;1:345-6.
8. Killiman MK, Pizzuti A, Grompe M, Caskey CT. Point mutations in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum Genet 1992;89:253-8.
9. Kneppers ALJ, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJB, Bakker E. Point mutation screening for 16 exons of the dystrophin gene by multiplex single-stranded conformation polymorphism analysis. Hum Mutat 1995;5:235-42.
10. Prior TW, Papp AC, Snyder PJ, et al. Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection. Am J Hum Genet 1994;50:68-73.
11. 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.
12. Roberts RG, Gardner RJ, Bobrow M. Searching for the 1 in 2400000: a review of dystrophin gene point mutations. Hum Mutat 1994;4:1-11.
13. Roberts RG, Bobrow M, Bentley DR. Point mutations in the dystrophin gene. Proc Natl Acad Sci USA 1992;89:2331-5.
14. Gardner RJ, Bobrow M, Roberts RG. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 1995;57:311-20.
15. Roest PAM, Roberts RG, Sugino S, van Ommen GJB, den Dunnen JT. Protein truncation test (PTT) for rapid detection of translation terminating mutations. Hum Mol Genet 1993;2:1719-21.