ArticleAnnals of neurology2011
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Article in Annals of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01193088 (Genetics of Charcot Marie Tooth Disease), which is not on this map. Cited by 55 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
Who cites it
55 citing papers in PubMed, 123 citations in OpenAlex.
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.Brain communications · 2023Article
- Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.Diagnostics (Basel, Switzerland) · 2021Review
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results.Social science & medicine (1982) · 2020Article
- Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.International journal of molecular and cellular medicine · 2019Article
- Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2018Article
- Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.Molecules and cells · 2016Article
- Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.Scientific reports · 2016Article
- Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.Neurology · 2016Article
- Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.Annals of neurology · 2016Article
- Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.Neuromuscular disorders : NMD · 2015Article
- Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Journal of neuromuscular diseases · 2015Article
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell reports · 2015Article
- Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.Molecular genetics & genomic medicine · 2015Article
- Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease.Annals of Indian Academy of Neurology · 2014Article
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.BMC medical genetics · 2014Article
- Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.European journal of human genetics : EJHG · 2014Article
- Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.Journal of neurology · 2014Article
- A statistical framework to guide sequencing choices in pedigrees.American journal of human genetics · 2014Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveCharcot-Marie-Tooth (CMT) disease comprises a large number of genetically distinct forms of inherited peripheral neuropathies. The relative uniform phenotypes in many patients with CMT make it difficult to decide which of the over 35 known CMT genes are affected in a given patient. Genetic testing decision trees are therefore broadly based on a small number of major subtypes (eg, CMT1, CMT2) and the observed mutation frequency for CMT genes. Since conventional genetic testing is expensive many rare genes are not being tested for at all.
methodsWhole-exome sequencing has recently been introduced as a novel and alternative approach. This method is capable of resequencing a nearly complete set of coding exons in an individual. We performed whole-exome sequencing in an undiagnosed family with CMT.
resultsWithin over 24,000 variants detected in 2 exomes of a CMT family, we identified a nonsynonymous GJB1 (Cx32) mutation. This variant had been reported previously as pathogenic in X-linked CMT families. Sanger sequencing confirmed complete cosegregation in the family. Affected individuals had a marked early involvement of the upper distal extremities and displayed a mild reduction of nerve conduction velocities.
interpretationWe have shown for the first time in a genetically highly heterogeneous dominant disease that exome sequencing is a valuable method for comprehensive medical diagnosis. Further improvements of exon capture design, next-generation sequencing accuracy, and a constant price decline will soon lead to the adoption of genomic approaches in gene testing of Mendelian disease.
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