Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1988 Jan;2(1):90-5.
doi: 10.1016/0888-7543(88)90113-9.

An Explanation for the Phenotypic Differences Between Patients Bearing Partial Deletions of the DMD Locus

Case Reports

An Explanation for the Phenotypic Differences Between Patients Bearing Partial Deletions of the DMD Locus

A P Monaco et al. Genomics. .


Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus. The model is based on the breakpoints of intragenic deletions and their effect on the translation of triplet codons into amino acids of the protein product. Deletions identified in three DMD patients are shown to shift the translational open reading frame (ORF) of triplet codons for amino acids, and each deletion is predicted to result in a truncated, abnormal protein product. Deletions identified in three BMD patients are shown to maintain the translational ORF for amino acids and predict a shorter, lower molecular weight protein. The smaller protein product is presumed to be semifunctional and to result in a milder clinical phenotype. The same ORF mechanism is also applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.

Similar articles

See all similar articles

Cited by 336 articles

  • Correction of muscular dystrophies by CRISPR gene editing.
    Chemello F, Bassel-Duby R, Olson EN. Chemello F, et al. J Clin Invest. 2020 Jun 1;130(6):2766-2776. doi: 10.1172/JCI136873. J Clin Invest. 2020. PMID: 32478678 Review.
  • Long-Term Efficacy of AAV9-U7snRNA-Mediated Exon 51 Skipping in mdx52 Mice.
    Aupy P, Zarrouki F, Sandro Q, Gastaldi C, Buclez PO, Mamchaoui K, Garcia L, Vaillend C, Goyenvalle A. Aupy P, et al. Mol Ther Methods Clin Dev. 2020 May 4;17:1037-1047. doi: 10.1016/j.omtm.2020.04.025. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32462052 Free PMC article.
  • Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
    Trifunov S, Natera-de Benito D, Exposito Escudero JM, Ortez C, Medina J, Cuadras D, Badosa C, Carrera L, Nascimento A, Jimenez-Mallebrera C. Trifunov S, et al. Front Neurol. 2020 Apr 21;11:304. doi: 10.3389/fneur.2020.00304. eCollection 2020. Front Neurol. 2020. PMID: 32373058 Free PMC article.
  • The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
    Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. Neri M, et al. Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020. Front Genet. 2020. PMID: 32194622 Free PMC article.
  • Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next.
    Morelli KH, Hatton CL, Harper SQ, Burgess RW. Morelli KH, et al. Brain Res. 2020 Apr 1;1732:146683. doi: 10.1016/j.brainres.2020.146683. Epub 2020 Jan 27. Brain Res. 2020. PMID: 32001243 Review.
See all "Cited by" articles

Publication types

LinkOut - more resources