Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran

Overview

Journal Iran J Child Neurol

Specialty Pediatrics

Date 2015 Mar 14

PMID 25767538

Citations 4

Authors

Mohammad Barzegar

Parinaz Habibi

Mortaza Bonyady

Vahideh Topchizadeh

Shadi Shiva

Affiliations

Soon will be listed here.

Abstract

Objective: Duchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different populations. This study investigates the deletion rate, type, and distribution of this gene in the Azeri Turk population of North West Iran.

Materials &methods: In this study, 110 patients with DMD/ BMD were studied for intragenic deletions in 24 exons and promoter regions of dystrophin genes by using multiplex PCR.

Results: Deletions were detected in 63 (57.3%) patients, and around 83% localized in the mid-distal hotspot of the gene (on exons 44-52), 21 cases (33.3 %) with single-exon deletions, and 42 cases (66.6%) with multi-exonic deletions. The most frequent deleted exons were exon 50 (15 %) and exon 49 (14%). No deletion was detected in exon 3.

Conclusion: This study suggests that the frequency and pattern of dystrophin gene deletions in DMD/ BMD in the Azeri Turk population of North West Iran occur in the same pattern when compared with other ethnic groups.

Citing Articles

Prevalence Study of Duchene Muscular Dystrophy and its Genetic Sequence in Southern India.

Sattenapalli N, Areti A, Koteswara Rao S, Alavala R, Kulandaivelu U Iran J Child Neurol. 2023; 17(1):29-37.

PMID: 36721834 PMC: 9881832. DOI: 10.22037/ijcn.v17i2.35071.

Using CRISPR/Cas9 System to Knock out Exon 48 in Gene.

Dara M, Razban V, Talebzadeh M, Moradi S, Dianatpour M Avicenna J Med Biotechnol. 2021; 13(2):54-57.

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The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.

Zamani G, Bereshneh A, Malamiri R, Bagheri S, Moradi K, Ashrafi M J Mol Neurosci. 2020; 70(10):1565-1573.

PMID: 32436198 DOI: 10.1007/s12031-020-01594-9.

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.

Nghiem P, Bello L, Balog-Alvarez C, Lopez S, Bettis A, Barnett H Mamm Genome. 2016; 28(3-4):106-113.

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