Home LiteratureArticle Details

PMID: 2491009 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

American journal of human genetics ·Vol. 45 ·No. 4 ·1989-10-00 ·Pages 498-506

Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapellet A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gailati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LA, van Paassen MB, van Ommen GJ, Kunkel LM

Abstract

About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is due to deletions of the dystrophin gene. For cases with a deletion mutation, the "reading frame" hypothesis predicts that BMD patients produce a semifunctional, internally deleted dystrophin protein, whereas DMD patients produce a severely truncated protein that would be unstable. To test the validity of this theory, we analyzed 258 independent deletions at the DMD/BMD locus. The correlation between phenotype and type of deletion mutation is in agreement with the "reading frame" theory in 92% of cases and is of diagnostic and prognostic significance. The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.

MeSH Terms

Adolescent Child Chromosome Deletion Cloning, Molecular DNA Probes Deoxyribonuclease HindIII Dystrophin/genetics Exons Humans Muscular Dystrophies/classification,genetics,physiopathology Mutation Reading Frames Restriction Mapping Transcription, Genetic

Chemicals

DNA Probes Dystrophin Deoxyribonuclease HindIII

Authors & Affiliations

36 authors, click to expand affiliations / ORCID

Koenig M

Division of Genetics, Howard Hughes Medical Institute, Children's Hospital, Boston.

Beggs A H

Moyer M

Scherpf S

Heindrich K

Bettecken T

Meng G

Müller C R

Lindlöf M

Kaariainen H

de la Chapellet A

Kiuru A

Savontaus M L

Gilgenkrantz H

Récan D

Chelly J

Kaplan J C

Covone A E

Archidiacono N

Romeo G

Liechti-Gailati S

Schneider V

Braga S

Moser H

Darras B T

Murphy P

Francke U

Chen J D

Morgan G

Denton M

Greenberg C R

Wrogemann K

Blonden L A

van Paassen M B

van Ommen G J

Kunkel L M

References (20)

20 references, click to expand

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
Hum Genet. 1987 Mar;75(3):221-7 PMID: 2881877
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
Cell. 1987 Jul 31;50(3):509-17 PMID: 3607877
A cDNA clone from the Duchenne/Becker muscular dystrophy gene.
Nature. 1987 Jul 30-Aug 5;328(6129):434-7 PMID: 3614347
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy.
Lancet. 1987 Dec 5;2(8571):1294-7 PMID: 2890901
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.
Science. 1988 Jan 29;239(4839):487-91 PMID: 2448875
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Cell. 1988 Apr 22;53(2):219-28 PMID: 3282674
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
Genomics. 1987 Dec;1(4):329-36 PMID: 2896627
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
N Engl J Med. 1988 May 26;318(21):1363-8 PMID: 3285207
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
Genomics. 1988 Jan;2(1):90-5 PMID: 3384440
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
Genomics. 1988 Apr;2(3):189-202 PMID: 3397058
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Am J Hum Genet. 1988 Aug;43(2):126-30 PMID: 2840818
A deletion hot spot in the Duchenne muscular dystrophy gene.
Genomics. 1988 Feb;2(2):101-8 PMID: 2900805
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
Science. 1988 Nov 4;242(4879):755-9 PMID: 3055295
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.
Am J Hum Genet. 1988 Nov;43(5):620-9 PMID: 2903663
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.
Nucleic Acids Res. 1988 Dec 9;16(23):11141-56 PMID: 3205741
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
J Clin Invest. 1989 Jan;83(1):95-9 PMID: 2536049
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies.
Neurology. 1989 Apr;39(4):465-74 PMID: 2927671
Gene deletions in X-linked muscular dystrophy.
Am J Hum Genet. 1989 Apr;44(4):496-503 PMID: 2929594
Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.
Hum Genet. 1989 Mar;81(4):343-8 PMID: 2784778
The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken.
EMBO J. 1988 Dec 20;7(13):4157-62 PMID: 3072195

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1989-10-00

Pages

498-506

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1683519

Subset

External Links

PubMed source PMC Full Text View journal details

Analysis Services

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Contact

WeChat Official Account