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Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Hum Mutat. 1999; 13(1):11-28.HM

Abstract

The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, P0), and the connexin 32 gene (Cx32, GJB1) code for membrane proteins expressed in Schwann cells of the peripheral nervous system (PNS). The early growth response 2 gene (EGR2) encodes a transcription factor that may control myelination in the PNS. Mutations in the respective genes, located on human chromosomes 17p11.2, 1q22-q23, Xq13.1, and 10q21.1-q22.1, are associated with several inherited peripheral neuropathies. To date, a genetic defect in one of these genes has been identified in over 1,000 unrelated patients manifesting a wide range of phenotypes, i.e., Charcot-Marie-Tooth disease type 1 (CMT1) and type 2 (CMT2), Dejerine-Sottas syndrome (DSS), hereditary neuropathy with liability to pressure palsies (HNPP), and congenital hypomyelination (CH). This large number of genetically defined patients provides an exceptional opportunity to examine the correlation between phenotype and genotype.

Authors+Show Affiliations

Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp, Department of Biochemistry, Belgium.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

9888385

Citation

Nelis, E, et al. "Mutations in the Peripheral Myelin Genes and Associated Genes in Inherited Peripheral Neuropathies." Human Mutation, vol. 13, no. 1, 1999, pp. 11-28.
Nelis E, Haites N, Van Broeckhoven C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat. 1999;13(1):11-28.
Nelis, E., Haites, N., & Van Broeckhoven, C. (1999). Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Human Mutation, 13(1), 11-28.
Nelis E, Haites N, Van Broeckhoven C. Mutations in the Peripheral Myelin Genes and Associated Genes in Inherited Peripheral Neuropathies. Hum Mutat. 1999;13(1):11-28. PubMed PMID: 9888385.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. AU - Nelis,E, AU - Haites,N, AU - Van Broeckhoven,C, PY - 1999/1/15/pubmed PY - 2000/6/22/medline PY - 1999/1/15/entrez SP - 11 EP - 28 JF - Human mutation JO - Hum Mutat VL - 13 IS - 1 N2 - The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, P0), and the connexin 32 gene (Cx32, GJB1) code for membrane proteins expressed in Schwann cells of the peripheral nervous system (PNS). The early growth response 2 gene (EGR2) encodes a transcription factor that may control myelination in the PNS. Mutations in the respective genes, located on human chromosomes 17p11.2, 1q22-q23, Xq13.1, and 10q21.1-q22.1, are associated with several inherited peripheral neuropathies. To date, a genetic defect in one of these genes has been identified in over 1,000 unrelated patients manifesting a wide range of phenotypes, i.e., Charcot-Marie-Tooth disease type 1 (CMT1) and type 2 (CMT2), Dejerine-Sottas syndrome (DSS), hereditary neuropathy with liability to pressure palsies (HNPP), and congenital hypomyelination (CH). This large number of genetically defined patients provides an exceptional opportunity to examine the correlation between phenotype and genotype. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/9888385/Mutations_in_the_peripheral_myelin_genes_and_associated_genes_in_inherited_peripheral_neuropathies_ L2 - https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A DB - PRIME DP - Unbound Medicine ER -