Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

Eva Nelis; Neva Haites; Christine Van Broeckhoven

doi:10.1002/(SICI)1098-1004(1999)13:1<11::AID-

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

Eva Nelis, Neva Haites, Christine Van Broeckhoven^* (Corresponding Author)

^*Corresponding author for this work

School of Medicine, Medical Sciences & Nutrition

University of Antwerp

Research output: Contribution to journal › Literature review › peer-review

207 Citations (Scopus)

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, Hum Mutat 13:11-28, 1999. (C) 1999 Wiley-Liss, Inc.

Original language	English
Pages (from-to)	11-28
Number of pages	18
Journal	Human Mutation
Volume	13
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<11::AID-
Publication status	Published - 6 Apr 1999

Bibliographical note

The Fund for Scientific Research-Flanders, Bel-gium (F.W.O.); Grant sponsor: The Geneeskundige Stichting Koningin Elisabeth (G.S.K.E.), a Special Research Fund of the University of Antwerp; Grant sponsor: The Association Française contre les Myopathies (A.F.M.); Grant sponsor: The Muscular Dystrophy Association (M.D.A.) (to C.V.B); Grant sponsor: TheAberdeen Royal Hospital NHS Trust Endowments (to N.H.); Grant sponsor: The European CMT consortium (to C.V.B.); Grant numbers: EU BIOMED2 grants CT961614 and CT960055

Keywords

CMT
HNPP
DSS
PMP22
MPZ
Cx32

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Cite this

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title = "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies",

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, Hum Mutat 13:11-28, 1999. (C) 1999 Wiley-Liss, Inc.",

keywords = "CMT, HNPP, DSS, PMP22, MPZ, Cx32",

author = "Eva Nelis and Neva Haites and {Van Broeckhoven}, Christine",

note = "The Fund for Scientific Research-Flanders, Bel-gium (F.W.O.); Grant sponsor: The Geneeskundige Stichting Koningin Elisabeth (G.S.K.E.), a Special Research Fund of the University of Antwerp; Grant sponsor: The Association Fran{\c c}aise contre les Myopathies (A.F.M.); Grant sponsor: The Muscular Dystrophy Association (M.D.A.) (to C.V.B); Grant sponsor: TheAberdeen Royal Hospital NHS Trust Endowments (to N.H.); Grant sponsor: The European CMT consortium (to C.V.B.); Grant numbers: EU BIOMED2 grants CT961614 and CT960055",

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AU - Nelis, Eva

AU - Haites, Neva

AU - Van Broeckhoven, Christine

N1 - The Fund for Scientific Research-Flanders, Bel-gium (F.W.O.); Grant sponsor: The Geneeskundige Stichting Koningin Elisabeth (G.S.K.E.), a Special Research Fund of the University of Antwerp; Grant sponsor: The Association Française contre les Myopathies (A.F.M.); Grant sponsor: The Muscular Dystrophy Association (M.D.A.) (to C.V.B); Grant sponsor: TheAberdeen Royal Hospital NHS Trust Endowments (to N.H.); Grant sponsor: The European CMT consortium (to C.V.B.); Grant numbers: EU BIOMED2 grants CT961614 and CT960055

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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, Hum Mutat 13:11-28, 1999. (C) 1999 Wiley-Liss, Inc.

AB - 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, Hum Mutat 13:11-28, 1999. (C) 1999 Wiley-Liss, Inc.

KW - CMT

KW - HNPP

KW - DSS

KW - PMP22

KW - MPZ

KW - Cx32

U2 - 10.1002/(SICI)1098-1004(1999)13:1<11::AID-

DO - 10.1002/(SICI)1098-1004(1999)13:1<11::AID-

M3 - Literature review

SN - 1098-1004

VL - 13

SP - 11

EP - 28

JO - Human Mutation

JF - Human Mutation

ER -

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

Abstract

Bibliographical note

Keywords

UN SDGs

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