Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
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.
Nelis
E
E
Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp, Department of Biochemistry, Belgium.
Haites
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N
Van Broeckhoven
C
C
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D017630:Connexins / Q000235:genetics; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D017874:Immediate-Early Proteins / Q000235:genetics; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics*; D010641:Phenotype; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D017874:Immediate-Early Proteins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human