Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

Human Mutation

Volumn 7, Issue 1, 1996, Pages 72-75

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

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN; RNA;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; GENETIC SCREENING; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN CELL; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA ANALYSIS;

CODON, NONSENSE; DYSTROPHIN; EXONS; HUMANS; IMMUNOHISTOCHEMISTRY; MUSCULAR DYSTROPHIES; NUCLEIC ACID HETERODUPLEXES; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0030032251     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<72::AID-HUMU13>3.0.CO;2-P     Document Type: Article

References (11)

1. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141-11156.
2. Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Recan D, Katz P, de la Chapelle A, Koenig M, Ginjaar B, Fardeau M, Tome F, Kahn A, Kaplan JC (1990) Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 63:1239-1248.
3. -1 to T) in a 5′ splice donor site of intron 13 of the dystrophin gene result in exon skipping and is responsible for Becker muscular dystrophy. Am J Hum Genet. 54:53-61.
4. Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin MF (1994) Glycine receptor B-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nature Genet 7:136-141.
5. Lebo RV, Olney RK, Golbus MS (1990) Somatic mosaicism at the Duchenne locus. Am J Med Genet 37:187-190.
6. Malhotra SB, Hart KA, Klamut HJ, Thomas NST, Bodrug SE, Burghes, AHM, Bobrow M, Harper PS, Thompson MW, Ray PN, Worton RG (1988) Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242:755-759.
7. Markiewicz S, Subtil A, Dautry-Varsat A, Fischer A, de Saint Basile G (1994) Detection of three nonsense mutations and one missense mutation in the interleuldn-2 receptor chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21:291-293.
8. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90-95.
9. Narita N, Nishio H, Kitoh Y, Ishikawa Y, Minami R, Nakamura H, 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.
10. Roberts RG, Passos-Bueno MR, Bobrow M, Vainzof M, Zatz M (1993) Point mutation in a Becker muscular dystrophy patient. Hum Mol Genet 2:75-77.
11. Sherratt TO, Vulliamy T, Dubowitz V, Sewry CA, Strong PN (1993) Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J. Hum Genet 53: 1007-1015.