ArticleJournal of medical genetics2007
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 50 citations in OpenAlex.
- Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses.Prenatal diagnosis · 2026Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.European journal of human genetics : EJHG · 2022Article
- Review
- A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family.Molecular genetics and genomics : MGG · 2021Article
- Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.BioMed research international · 2020Article
- Article
- Clinical and genetic characteristics of female dystrophinopathy carriers.Molecular medicine reports · 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
- Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.Journal of human genetics · 2017Article
- Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.Molecular therapy. Nucleic acids · 2017Article
- Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status.Stem cells international · 2017Article
- Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Journal of genetics · 2016Article
- Targeted exon skipping to correct exon duplications in the dystrophin gene.Molecular therapy. Nucleic acids · 2014Article
- Carrier detection in Duchenne muscular dystrophy using molecular methods.The Indian journal of medical research · 2013Article
- Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.Orphanet journal of rare diseases · 2012Article
- Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.The Journal of biological chemistry · 2012Article
- Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.BMC medical genetics · 2011Article
- Clinical and genetic characterization of manifesting carriers of DMD mutations.Neuromuscular disorders : NMD · 2010Article
- Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.PloS one · 2010Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecent methodological advances have improved the detection rate for dystrophin mutations, but there are no published studies that have measured the clinical utility of these protocols for carrier detection compared with conventional carrier testing protocols that use pedigree, serum creatine kinase levels and linkage analysis. METHODS AND SUBJECTS: The clinical utility of a combined mutation detection protocol was measured. It involved quantitative PCR procedures followed by DNA sequence analysis for the identification of dystrophin mutation carriers in 2101 women at risk of being carriers from 348 mutation-known Duchenne or Becker muscular dystrophy pedigrees.
resultsThe combined mutation detection protocol identified a mutation in 96% and 82% of index cases of Duchenne muscular dystrophy and Becker muscular dystrophy, respectively. An additional 692 (33%) potential carriers were correctly classified by the combined mutation detection protocol compared with pedigree, serum creatine kinase levels and linkage analysis. Significantly lower mutation carrier rates were identified in the mothers of isolated cases with deletion mutations than predicted from theoretical considerations, but these findings were not confirmed for duplication and DNA sequence mutations.
conclusionsThere are significant clinical benefits to be gained from a combined mutation detection protocol for carrier detection. It is recommended that mutation-specific carrier frequencies for the different classes of dystrophin mutations should be taken into account in genetic counselling practice.
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