Estimation of the Mutation Frequencies
in Charcot-Marie-Tooth Disease Type 1
and Hereditary Neuropathy with
Liability to Pressure Palsies:
A European Collaborative Study

Nelis, Eva; Broeckhoven, Christine Van; Mariman, E.C.M.; Gabreëls-Festen, A.A.W.M.

doi:10.1159/000472166

Cited by 385 publications

(259 citation statements)

References 54 publications

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“…The X-linked form of CMT (CMTX) is the second most frequent form of CMT (Ionasescu et al 1995;Nelis et al 1996;Mersiyanova et al 2000;Mostacciuolo et al 2001;Hattori et al 2003;Casasnovas et al 2006) and is associated with a large number of mutations in the gap junction beta 1 (GJB1) gene on chromosome Xq13 encoding the gap junction protein Connexin 32 (Cx32) (Bergoffen et al 1993;Shy et al 2007). Cx32 is expressed by Schwann cells and oligodendrocytes.…”

Section: Introductionmentioning

confidence: 99%

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

et al. 2008

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Section: Introductionmentioning

confidence: 99%

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

et al. 2008

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“…CMT type 1A (CMT1A) is the most prevalent type and is caused by a 1.5 Mb duplication containing the gene for peripheral myelin protein 22 (PMP22) or by a point mutation within the gene [3]. Its clinical characteristics involve distal muscle weakness and atrophy in the limbs, leading to pes cavus, hammer toes, and claw hand.…”

Section: Introductionmentioning

confidence: 99%

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

Joo

et al. 2004

Neuromuscular Disorders

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“…The defective genes have been identified for most subtypes of demyelinating CMT (CMT1) and mutational analysis has become an important tool for the diagnosis and genetic counselling of CMT patients. Autosomaldominant CMT1 is the most frequent form (approximately 70% of CMT patients; Nelis et al 1996), and the genetic defect in the majority of cases is linked to chromosome 17p11.2-p12 (reviewed by Suter & Patel, 1994). This specific CMT1 subtype has been designated CMT1A and human molecular genetics has demonstrated a tight association with an intrachromosomal duplication of 1.5 Mb (Lupski et al 1991a;Raeymaekers et al 1991).…”

Section: Genetics Of Hmsnmentioning

confidence: 99%

Mouse genetics in cell biology

Mansuy¹,

Suter²

2000

Exp. Physiol.

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One of the most fascinating challenges in modern cell biology is the unravelling of the molecular mechanisms underlying the development and formation of functional organs, and the maintenance and regeneration of vertebrate tissues. In such processes, cell-cell interactions, mediated by direct contacts or secreted factors, and cell-extracellular matrix interactions are essential for the control of cell proliferation, migration, differentiation and death. These events are mediated by numerous molecular signals that have to be integrated within the cell to activate specific sets of regulatory factors responsible for correct spatial and temporal gene regulation. We are still far away from a complete understanding of these complex events at a molecular level but molecular genetic and genomic approaches have provided valuable tools and methodologies for the study of complex cellular functions in vivo. In particular, the development of reverse genetic methods such as transgene expression and gene targeting has allowed substantial progress in the understanding of the molecular mechanisms of cell-cell and cell-extracellular interactions. Although initially limited by a lack of spatial and temporal specificity, these approaches have recently undergone major developments partly overcoming these limitations, and have brought novel perspective into the application of genetic tools for the study of highly complex biological functions. To illustrate the power of genetic approaches in cell biology, we will describe in the first part of this review, several examples of mutant mice models that have allowed studies of developmental processes and neuron-glia interactions in the peripheral nervous system (PNS). The second part of the review will focus on recent advances of genetic approaches by describing the major methodologies, their latest developments and a few remarkable examples of their application in neurobiology and cancer research. Cell-cell and cell-extracellular matrix interactionsNeuronal and glial cell interactions in the nervous system Peripheral nerves are well suited to the study of the mechanisms of cell-cell interactions in organogenesis, a process in which cells determine the fate of their neighbours (Taylor & Suter, 1997;Jessen & Mirsky, 1999). This is exemplified in the process of myelination where two cell types, neurons and Schwann cells, exhibit a profound influence on each other. While axons regulate the proliferation and differentiation of Schwann cells, the latter are the main determinants of axon calibre and ion channel distribution. It has recently become clear that this cellular interdependence is not restricted to postnatal events, but that embryonic Schwann cell precursors and neurons also support each other for survival during critical periods of development. Furthermore, disturbance of the delicate balance between neuron and glia interactions by genetic manipulation has been revealed to be Genetic methodologies have provided powerful means for investigating the cellular and molecular mechanisms of ...

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Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

Cited by 385 publications

References 54 publications

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

Mouse genetics in cell biology

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