ArticleClinical genetics2013
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
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- Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.Brain communications · 2020Article
- Clinical whole-exome sequencing results impact medical management.Molecular genetics & genomic medicine · 2018Article
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- Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Cold Spring Harbor molecular case studies · 2016Article
- Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.Scientific reports · 2016Article
- Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.Molecular genetics & genomic medicine · 2015Article
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- Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.Journal of pediatric gastroenterology and nutrition · 2014Article
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.BMC medical genetics · 2014Article
- Novel (ovario) leukodystrophy related to AARS2 mutations.Neurology · 2014Article
- Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.European journal of human genetics : EJHG · 2014Article
- DIAMUND: direct comparison of genomes to detect mutations.Human mutation · 2014Article
- Application of whole exome sequencing to identify disease-causing variants in inherited human diseases.Genomics & informatics · 2012Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patient with a 2-year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work-up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di-deoxy sequencing. WES revealed a de novo non-synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.
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