2009
DOI: 10.1007/s00415-009-5401-2
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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

Abstract: Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of the most common CMT type, CMT1A, is a 1.5 Mb chromosomal duplication at 17p12 that contains the gene PMP22. Only recently it has been realized that such copy number variants (CNV) are a widespread phenomenon and i… Show more

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Cited by 22 publications
(18 citation statements)
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“…However, we did not find any quantitative alteration in major-causative genes other than PMP22 by MLPA analysis. Huang et al 34 did not find any copy number variation in CMT-causing genes other than PMP22 on comparative genomic hybridization microarrays. This suggests that quantitative alteration of disease-causing genes other than PMP22 is not likely a major cause of CMT.…”
Section: Discussionmentioning
confidence: 95%
“…However, we did not find any quantitative alteration in major-causative genes other than PMP22 by MLPA analysis. Huang et al 34 did not find any copy number variation in CMT-causing genes other than PMP22 on comparative genomic hybridization microarrays. This suggests that quantitative alteration of disease-causing genes other than PMP22 is not likely a major cause of CMT.…”
Section: Discussionmentioning
confidence: 95%
“…6 However, CNVs of other neuropathy genes are rarely reported. 7 In this article, we describe a family with an intragenic duplication CNV in one of the autosomal-recessive (AR)–CMT genes, NDRG1 , with three affected individuals born to consanguineous parents from a first-degree cousin marriage. To the best of our knowledge, this is the first report of AR duplication CNV causing a CMT disease phenotype and only the third mutation reported in the NDRG1 gene.…”
Section: Introductionmentioning
confidence: 99%
“…However, CMT has been associated with mutations in over 35 genes. Occurrence of CNV in other forms of CMT was investigated by Huang and co-workers [8]. The study cohort included 97 patients and the analysis consisted of a custom CGH microarray for 34 genomic regions harbouring known genes for CMT.…”
Section: Genotypic Analysis Of Congenital Myasthenic Syndromementioning
confidence: 99%