Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients

1997 ◽  
Vol 99 (2) ◽  
pp. 206-208 ◽  
Author(s):  
Vinita Singh ◽  
Shirish Sinha ◽  
Sudhish Mishra ◽  
Lakshmi Shankar Chaturvedi ◽  
Sunil Pradhan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Gene Deletions

scholarly journals Screening of Dystrophin Gene Deletions in Egyptian Patients with DMD/BMD Muscular Dystrophies

2000 ◽  
Vol 16 (3-4) ◽  
pp. 125-129 ◽  
Author(s):  
Laila K. Effat ◽  
Ashraf A. El-Harouni ◽  
Khalda S. Amr ◽  
Tarik I. El-Minisi ◽  
Nagwa Abdel Meguid ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dna Analysis ◽  
Human Genetics ◽  
Hot Spot ◽  
Cost Effective ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Pedigree Analysis ◽  
Gene Deletions ◽  
Serum Creatine Phosphokinase

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phosphokinase enzyme (CPK) levels and DNA analysis. Multiplex PCR using 18 pairs of specific primers were used for screening of deletion mutations within the dystrophin gene. A frequency of 55% among the families. Sixty per cent of detected deletions involved multiple exons spanning the major or the minor hot spot of the dystrophin gene. The remainder 40% which mainly involved exon 45. Comparing these findings with frequencies of other countries it was found that our figures fall within the reported range of 40%– for deletions. The distribution of deletions in our study and other different studies was variable and specific ethnic differences do not apparently account for specific deletions. In addition this study concluded that employment of the 18 exon analysis is a cost effective and a highly accurate (97% to launch a nationwide program.

Origin of dystrophin gene deletions in Duchenne and Becker muscular dystrophy patients from Ukraine

2017 ◽  
Vol 51 (3) ◽  
pp. 185-191 ◽  
Author(s):  
S. A. Kravchenko ◽  
M. V. Nechyporenko ◽  
L. A. Livshits
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Gene Deletions

Proximal Dystrophin Gene Deletions and Protein Alterations in Becker Muscular Dystrophy

2005 ◽  
Vol 1048 (1) ◽  
pp. 406-410 ◽  
Author(s):  
IVANA NOVAKOVIĆ ◽  
DRAGANA BOJIĆ ◽  
SLOBODANKA TODOROVIĆ ◽  
SLOBODAN APOSTOLSKI ◽  
LJILJANA LUKOVIĆ ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Gene Deletions ◽  
Protein Alterations

scholarly journals Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

2002 ◽  
Vol 2 (3) ◽  
pp. 158-160 ◽  
Author(s):  
Aziza Sbiti ◽  
Fatiha El Kerch ◽  
Abdelaziz Sefiani
Keyword(s):  
Hot Spots ◽  
Neuromuscular Disease ◽  
Multiplex Polymerase Chain Reaction ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Chain Reaction ◽  
Gene Deletions ◽  
Polymerase Chain ◽  
Dmd Gene ◽  
Moroccan Patients

Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn). Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR) to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. We found dystrophin gene deletions in 37 cases. Therefore the frequency in Moroccan DMD/BMD patients is about 51.3%. All deletions were clustered in the two known hot-spots regions, and in 81% of cases deletions were detected in the region from exon 43 to exon 52. These findings are comparable to those reported in other studies. It is important to note that in our population, we can first search for deletions of DMD gene in the most frequently deleted exons determined by this study. This may facilitate the molecular diagnosis of DMD and BMD in our country.

Abstract 468: Previously Unrecognized Intronic Variants in the Dystrophin Gene Identified as Possible Contributors to Dilated Cardiomyopathy

2020 ◽  
Vol 127 (Suppl_1) ◽  
Author(s):  
Alex Gyftopoulos ◽  
Tamara Ashvetiya ◽  
Yi-Ju Chen ◽  
Libin Wang ◽  
Charles H Williams ◽  
...  
Keyword(s):  
Heart Failure ◽  
Muscular Dystrophy ◽  
Dilated Cardiomyopathy ◽  
Allele Frequency ◽  
Minor Allele Frequency ◽  
Mixed Model ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Minor Allele ◽  
Intronic Variants

Nonischemic dilated cardiomyopathy (DCM) often has a genetic etiology, however, its prevalence and etiologies are not completely understood. The UK Biobank comprises clinical and genetic data for greater than 500,000 individuals with enrollees 40-69 years of age. Our group created a custom phenotype of heart failure using ICD-10 codes for several subtypes of heart failure diagnoses including DCM. We then compared the individuals included in the custom heart failure phenotype to control individuals in a 20-to-1 fashion to identify genetic differences. Data were compared using Mixed Model Analysis for Pedigrees/Populations (MMAP) mixed-model regression. We identified 8 unlinked intronic variants in the dystrophin gene ( DMD ) that, when separated by self-identified race, occurred with a combined minor allele frequency of 0.15 in individuals with heart failure who identified as being of African descent. The combined minor allele frequency of these variants was 0.05 in individuals who self-identified as being of European descent. One variant of DMD in particular (rs139029250), was identified with a minor allele frequency of 0.05 in African British with DCM. The unadjusted odds ratio of a diagnosis of heart failure in individuals with rs129029250 was 4.65. When separated by gender, the unadjusted odds ratios are 2.02 for females and 6.44 for males. DMD is most notably known for its role in Duchenne and Becker muscular dystrophy, both of which are known to cause dilated cardiomyopathy in affected individuals. However, none of the individuals (36 female and 43 male) identified in our analysis with rs129029250 have been diagnosed with Duchenne muscular dystrophy, Becker muscular dystrophy, or a primary disorder of muscle (ICD code G70). Additionally, these individuals have an intronic variant of DMD , while Duchene and Becker muscular dystrophy are both due to exonic mutations. These findings suggest a possible common variant in the DMD gene that may contribute to DCM in individuals of African descent.

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