PubMed 21613657

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Title: [Hereditary neuropathy: variety of disease-causing genes and progress of molecular genetic diagnosis].

Authors: Akihiro Hashiguchi, Hiroshi Takashima

Journal, date & volume: Brain Nerve, 2011 Jun , 63, 539-48

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Inherited neuropathies are clinically and genetically heterogeneous. At least 30 genes have been associated with Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. Genetic studies have revealed that abnormalities in the following factors are the cause of inherited neuropathies: myelin components, transcription factors controlling myelination, myelin maintenance system, differentiation factors related to the peripheral nerve, neurofilaments, protein transfer system, mitochondrial proteins, DNA repair, RNA/protein synthesis, ion channels, and aminoacyl-tRNA synthetase. On the other hand, a precise molecular diagnosis is often needed to confirm a clinical diagnosis, offer genetic counseling to the patient and family, and provide prognostic information to the patient. Unfortunately, along with the increase in the number of genes that must be screened for mutations, the labor and reagent costs of molecular genetic testing have increased significantly. On the basis of the recent progress of DNA analysis methods, the use of resequencing microarray seems to be an economical and highly sensitive method to detect mutations. In this study, we attempted to screen for CMT patients mutations using these methods.