Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Landouré, Guida; Sullivan, Jeremy M.; Johnson, Janel O.; Munns, Clare H.; Shi, Yijun; Diallo, Oumarou; Gibbs, J. Raphael; Gaudet, Rachelle; Ludlow, Christy L.; Fischbeck, Kenneth H.; Traynor, Bryan J.; Burnett, Barrington G.; Sumner, Charlotte J.

doi:10.1212/wnl.0b013e31825f04b2

Cited by 34 publications

(21 citation statements)

References 7 publications

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“…A similar approach was used by Landouré et al [2012] to study a family with a CMT2C phenotype (axonal CMT with vocal cord paralysis). One affected individual was analyzed by exome sequencing leading to identification of a novel sequence variant (c.557G 1 A, p.R186Q) in the transient receptor potential vanilloid 4 gene (TRPV4) that was already known to cause CMT2C.…”

Section: Highly Parallel Genetic Technologies and Cmt: Recent Discovementioning

confidence: 99%

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Azzedine

Senderek²,

Rivolta³

et al. 2012

Mol Syndromol

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Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders of the peripheral nervous system, mainly characterized by distal muscle weakness and atrophy leading to motor handicap. With an estimated prevalence of 1 in 2,500, this condition is one of the most commonly inherited neurological disorders. Mutations in more than 30 genes affecting glial and/or neuronal functions have been associated with different forms of CMT leading to a substantial improvement in diagnostics of the disease and in the understanding of implicated pathophysiological mechanisms. However, recent data from systematic genetic screening performed in large cohorts of CMT patients indicated that molecular diagnosis could be established only in ∼50–70% of them, suggesting that additional genes are involved in this disease. In addition to providing an overview of genetic and functional data concerning various CMT forms, this review focuses on recent data generated through the use of highly parallel genetic technologies (SNP chips, sequence capture and next-generation DNA sequencing) in CMT families, and the current and future impact of these technologies on gene discovery and diagnostics of CMTs.

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Section: Highly Parallel Genetic Technologies and Cmt: Recent Discovementioning

confidence: 99%

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Azzedine

Senderek²,

Rivolta³

et al. 2012

Mol Syndromol

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show abstract

“…In some cases, WES has even been able to detect a disease variant missed by a previous genetic test due to limitation of the technique (sensitivity) or the test itself (design). For example, Landoure et al have reported a mutation in TRPV4 in a patient affected by Charcot-Marie-Tooth type 2 [57]. The mutation was initially missed by Sanger sequencing due to a SNP in the primer but later identified by WES.…”

Section: Rare Diseasesmentioning

confidence: 99%

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

Tétreault

Bareke

Nadaf

et al. 2015

Expert Review of Molecular Diagnostics

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Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey' for many patients. In this review, we present a technical overview of WES analysis, variants annotation and interpretation in a clinical setting. We evaluate the usefulness of clinical WES in different clinical indications, such as rare diseases, cancer and complex diseases. Finally, we discuss the efficacy of WES as a diagnostic tool and the impact on patient management.

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“…However, next-gen approaches have proved their usefulness with a spate of discoveries. Mutations in over 50 genes have been associated with Charcot-Marie-Tooth, and at least one, identified through a next-generation (exome-sequencing) approach, had been missed by conventional Sanger sequencing (Landoure et al 2012). Spinocerebellar ataxia, another condition with marked locus heterogeneity, was also mechanistically unraveled by exome sequencing.…”

Section: Human Genome Project and Hapmapmentioning

confidence: 99%

Gene regulation and genetics in neurochemistry, past to future

Barger

2016

Journal of Neurochemistry

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Ask any neuroscientist to name the most profound discoveries in the field in the past 60 years, and at or near the top of the list will be a phenomenon or technique related to genes and their expression. Indeed, our understanding of genetics and gene regulation has ushered in whole new systems of knowledge and new empirical approaches, many of which could not have even been imagined prior to the molecular biology boon of recent decades. Neurochemistry, in the classic sense, intersects with these concepts in the manifestation of neuropeptides, obviously dependent upon the central dogma (the established rules by which DNA sequence is eventually converted into protein primary structure) not only for their conformation but also for their levels and locales of expression. But, expanding these considerations to non-peptide neurotransmitters illustrates how gene regulatory events impact neurochemistry in a much broader sense, extending beyond the neurochemicals that translate electrical signals

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Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Cited by 34 publications

References 7 publications

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

Gene regulation and genetics in neurochemistry, past to future

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