Mutations in the peripheral myelin genes and associated genes in inheritedperipheral 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 protein s expressed in Schwann cells of the peripheral nervous system (PNS). The ea rly growth response 2 gene (EGR2) encodes a transcription factor that may c ontrol myelination in the PNS. Mutations in the respective genes, located o n human chromosomes 17p11.2, 1q22-q23, Xq13.1, and 10q21.1-q22.1, are assoc iated 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., Cha rcot Marie Tooth disease type 1 (CMT1) and type 2 (CMT2), Dejerine-Sottas s yndrome (DSS), hereditary neuropathy with liability to pressure palsies (HN PP), and congenital hypomyelination (CH). This large number of genetically defined patients provides an exceptional opportunity to examine the correla tion between phenotype and genotype, Hum Mutat 13:11-28, 1999. (C) 1999 Wil ey-Liss, Inc.