» Articles » PMID: 2383276

A Very Small Frame-shifting Deletion Within Exon 19 of the Duchenne Muscular Dystrophy Gene

Overview
Publisher Elsevier
Specialty Biochemistry
Date 1990 Jul 31
PMID 2383276
Citations 18
Authors
Affiliations
Soon will be listed here.
Abstract

We report the molecular characterization of a Japanese Duchenne muscular dystrophy (DMD) patient. The analysis of genomic gene by polymerase chain reaction indicates that the individuals have a limited deletion within an amplified region, which encompasses exon 19 of DMD gene. The amplified region was sequenced. Comparison of the deletion joint sequence with the normal amplified region sequence indicates that both 5' and 3' deletion end points are present within exon 19 and the deletion removes total 52 bp out of 88 bp of exon 19. Both his mother and sister are carriers of the deletion-containing allele. The mutation introduces a termination codon at residue 791 in exon 20, and is predicted to result in the production of a severely truncated protein. This sort of deletion (designated as DMD-Kobe) might be classified as a new type of DMD gene abnormality.

Citing Articles

30 Years Since the Proposal of Exon Skipping Therapy for Duchenne Muscular Dystrophy and the Future of Pseudoexon Skipping.

Matsuo M Int J Mol Sci. 2025; 26(3).

PMID: 39941071 PMC: 11818380. DOI: 10.3390/ijms26031303.


Antisense Oligonucleotide-Mediated Exon-skipping Therapies: Precision Medicine Spreading from Duchenne Muscular Dystrophy.

Matsuo M JMA J. 2021; 4(3):232-240.

PMID: 34414317 PMC: 8355726. DOI: 10.31662/jmaj.2021-0019.


Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy.

Fortunato F, Rossi R, Falzarano M, Ferlini A J Clin Med. 2021; 10(4).

PMID: 33671409 PMC: 7922390. DOI: 10.3390/jcm10040820.


Peptide-conjugate antisense based splice-correction for Duchenne muscular dystrophy and other neuromuscular diseases.

Tsoumpra M, Fukumoto S, Matsumoto T, Takeda S, Wood M, Aoki Y EBioMedicine. 2019; 45:630-645.

PMID: 31257147 PMC: 6642283. DOI: 10.1016/j.ebiom.2019.06.036.


Normal and altered pre-mRNA processing in the DMD gene.

Tuffery-Giraud S, Miro J, Koenig M, Claustres M Hum Genet. 2017; 136(9):1155-1172.

PMID: 28597072 DOI: 10.1007/s00439-017-1820-9.