Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4

Neuromuscular Disorders

Volumn 21, Issue 3, 2011, Pages 178-182

  Baskin, Berivan ^a,b   Gibson, William T ^c   Ray, Peter N ^a,b,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

DMD; Duchenne muscular dystrophy; Insertion; MRNA; Rearrangement

Indexed keywords

CREATINE KINASE; DYSTROPHIN; GENOMIC DNA;

AMPLICON; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4; COMPARATIVE GENOMIC HYBRIDIZATION; CREATINE KINASE BLOOD LEVEL; DMD GENE; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC COUNSELING; HUMAN; INTRON; MALE; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; GENE REARRANGEMENT; HUMANS; INTRONS; MALE; MUSCULAR DYSTROPHY, DUCHENNE;

EID: 79951955201     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.11.008     Document Type: Article

References (13)

1. Aartsma-Rus A., Van Deutekom J.C., Fokkema I.F., Van Ommen G.J., Den Dunnen J.T. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006, 34:135-144.
2. Stockley T.L., Akber S., Bulgin N., Ray P.N. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genet Test 2006, 10:229-243.
3. Zhang Z., Habara Y., Nishiyama A., Oyazato Y., Yagi M., Takeshima Y., et al. Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons. J Hum Genet 2007, 52:607-617.
4. Beroud C., Carrie A., Beldjord C., Deburgrave N., Llense S., Carelle N., et al. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul Disord 2004, 14:10-18.
5. Madden H.R., Fletcher S., Davis M.R., Wilton S.D. Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping. Hum Mutat 2009, 30:22-28.
6. Oshima J., Magner D.B., Lee J.A., Breman A.M., Schmitt E.S., White L.D., et al. Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet 2009, 126:411-423.
7. Zhang Z., Yagi M., Okizuka Y., Awano H., Takeshima Y., Matsuo M. Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene. J Hum Genet 2009, 54:466-473.
8. Musova Z., Hedvicakova P., Mohrmann M., Tesarova M., Krepelova A., Zeman J., et al. A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration. Biochem Biophys Res Commun 2006, 347:145-149.
9. Narita N., Nishio H., Kitoh Y., Ishikawa Y., Ishikawa Y., Minami R., et al. 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 1993, 91:1862-1867.
10. Toffolatti L., Cardazzo B., Nobile C., Danieli G.A., Gualandi F., Muntoni F., et al. Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics 2002, 80:523-530.
11. del Gaudio D., Yang Y., Boggs B.A., Schmitt E.S., Lee J.A., Sahoo T., et al. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008, 29:1100-1107.
12. Hegde M.R., Chin E.L., Mulle J.G., Okou D.T., Warren S.T., Zwick M.E. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008, 29:1091-1099.
13. Zhang F., Carvalho C.M., Lupski J.R. Complex human chromosomal and genomic rearrangements. Trends Genet 2009, 25:298-307.