ArticleMolecular genetics & genomic medicine2019
Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.International journal of molecular sciences · 2025Review
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
- Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach.Diagnostics (Basel, Switzerland) · 2023Article
- Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis.BMC medical genomics · 2023Article
- Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
3 authors at 2 institutions in 1 country.
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Abstract
backgroundVariable disease phenotypes can be influenced by several factors such as allelic variation, environmental factors, genetic modifiers, and genotype-environment interaction. Herein to the best of our knowledge, this is the first report of the coexistence of DMD and RNF213 gene mutations in a Korean family with differing disease phenotypes of Duchenne muscular dystrophy (DMD) and Moyamoya disease (MMD) in each female sibling.
methodsDeletion or duplication of the exon in DMD was screened using multiplex ligation-dependent probe amplification (MLPA). Subsequently, single exon deletion or duplication identified by MLPA was confirmed by Sanger sequencing. On the other hand, a common missense mutation [NM_001256071.2:c.14429G>A (p.Arg4810Lys)] related to MMD in exon 60 of RNF213 was also identified by Sanger sequencing.
resultsThree female family members carried the same disease-causing mutations, c.9953_9954delAG of DMD and c.14429G>A of RNF213. Two (II-2 and II-3) of these siblings suffer from the disease but exhibited different DMD or MMD symptoms, while the mother (I-2) seemed almost unaffected.
conclusionThis report illustrates the difficulty that might be encountered in the interpretation of complex clinical manifestations when different genetic defects affecting neuromuscular and vascular diseases coexist.
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