ArticleBehavioral and brain functions : BBF2008
Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations.
Article in Behavioral and brain functions : BBF, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 37 citations in OpenAlex.
- Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.International journal of molecular sciences · 2024Article
- Higher Prevalence of Nonsense PathogenicBrain sciences · 2023Article
- Review
- The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.Journal of molecular neuroscience : MN · 2020Article
- Repurposing Pathogenic Variants ofCurrent genomics · 2019Article
- Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.Frontiers in pharmacology · 2019Article
- Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.Chinese medical journal · 2018Article
- Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.Orphanet journal of rare diseases · 2017Article
- MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.BMC medical genetics · 2017Article
- Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.Journal of clinical neurology (Seoul, Korea) · 2017Article
- Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.International journal of molecular sciences · 2015Article
- A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.Orphanet journal of rare diseases · 2015Article
- Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.Journal of Korean medical science · 2012Article
- Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDNA deletion and duplication were determined as the major mutation underlying Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
methodApplying multiplex ligation-dependent probe amplification (MLPA), we have analyzed 179 unrelated DMD/BMD subjects from northern China.
resultsSeventy-three percent of the subjects were found having a deletion (66.25%) or duplication (6.25%). Exons 51-52 were detected as the most common fragment deleted in single-exon deletion, and the region of exons 45-50 was the most common exons deleted in multi-exon deletions. About 90% of DMD/BMD cases carry a small size deletion that involves 10 exons or less, 26.67% of which carry a single-exon deletion. Most of the smaller deletions resulted in an out-of-frame mutation. The most common exons deleted were determined to be between exon 48 and exon 52, with exon 50 was the model allele. Verifying single-exon deletion, one sample with a deletion of exon 53 that was initially observed from MLPA showed that there was a single base deletion that abolished the ligation site in MLPA. Confirmation of single-exon deletion is recommended to exclude single base deletion or mutation at the MLPA ligation site.
conclusionThe frequency of deletion and duplication in northern China is similar to global ethnic populations.
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