ArticlePloS one2012
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.Molecular genetics & genomic medicine · 2020Article
- A different background of arrhythmia in siblings with a positive family history of sudden death at young age.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2020Article
- A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.Chinese medical journal · 2019Article
- Autophagic vacuolar pathology in desminopathies.Neuromuscular disorders : NMD · 2015Article
- Novel Approaches for Fungal Transcriptomics from Host Samples.Frontiers in microbiology · 2015Review
- Achieving high-sensitivity for clinical applications using augmented exome sequencing.Genome medicine · 2015Article
- Hunting human disease genes: lessons from the past, challenges for the future.Human genetics · 2013Review
- Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.PLoS currents · 2013Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes exhaustive clinical testing, prioritizing sequencing of specific genes is difficult due to the similarity of clinical presentation, and the number of variants returned through exome sequencing can make the identification of the disease-causing variant difficult. We have filtered variants found through exome sequencing by prioritizing variants in genes known to be involved in muscle disease while examining the quality and depth of coverage of those genes. We ascertained two families with autosomal dominant limb-girdle muscular dystrophy of unknown etiology. To identify the causal mutations in these families, we performed exome sequencing on five affected individuals using the Agilent SureSelect Human All Exon 50 Mb kit and the Illumina HiSeq 2000 (2×100 bp). We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. We also discuss challenges encountered due to depth of coverage variability at specific sites and the annotation of a functionally proven splice site variant as an intronic variant.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.