Gene: PMP22

Alternate names for this Gene: CIDP|CMT1A|CMT1E|DSS|GAS-3|GAS3|HMSNIA|HNPP|Sp110

Gene Summary: This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17p12

Description of this Gene: peripheral myelin protein 22

Type of Gene: protein-coding

rs864622180 in PMP22 gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs104894623 in PMP22 gene and Charcot-Marie-Tooth Disease, Demyelinating, Type 1e PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 10330345 1999 A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

PMID 12578939 2003 Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

PMID 15099592 2004 A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

rs104894617 in PMP22 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 8510709 1993 Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

PMID 12402337 2002 Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 8655153 1996 A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.

PMID 8777804 1995 [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].

PMID 11140841 2000 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

PMID 10489052 1999 Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.

PMID 10737979 2000 Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

PMID 12497641 2003 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

PMID 1303281 1992 Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

PMID 9040744 1997 A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.

PMID 8615087 1995 Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.

PMID 8252046 1993 Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

PMID 9371959 1997 PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies.

PMID 9040737 1997 A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.

PMID 22006697 2011 Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

PMID 21252112 2011 Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

PMID 21149811 2010 Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.

rs104894617 in PMP22 gene and Dejerine-Sottas Disease (disorder) PMID 8995589 1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

PMID 7675244 1995 Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.

PMID 12090401 2002 Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.

PMID 11438991 2001 Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

PMID 9544841 1998 Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 10663978 2000 Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.

PMID 9452053 1998 Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

PMID 9585367 1998 "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."

PMID 8252046 1993 Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

PMID 10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

PMID 7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

PMID 9187667 1997 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

PMID 9055797 1997 Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.

PMID 9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

PMID 9544841 1998 We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.

rs104894621 in PMP22 gene and Dysmorphic features PMID 9543325 1998 Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

PMID 26076881 2015 Molecular and clinical features of inherited neuropathies due to PMP22 duplication.

PMID 24534835 2014 Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.

PMID 7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

PMID 23781966 2013 Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 24668782 2014 Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 23224996 2013 The PMP22 gene and its related diseases.

PMID 24726093 2014 Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

PMID 11523566 2001 EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 24646194 2014 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

PMID 1523566 1992 [The reflexotherapy of patients with respiratory allergoses].

PMID 10369870 1999 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

PMID 18698610 2008 Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

PMID 12439896 2002 Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

PMID 10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 18592125 2008 A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

rs104894617 in PMP22 gene and Hereditary Motor and Sensory Neuropathy Type I PMID 26102530 2015 Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.

PMID 9425015 1998 Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

PMID 21827951 2011 Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease.

PMID 18795802 2008 The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized.

PMID 23689413 2013 Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E).

PMID 12090404 2002 Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.

PMID 6313869 1983 Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination.

PMID 1303281 1992 Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

PMID 25385046 2014 Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.

PMID 8995589 1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

PMID 10399754 1999 Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.

PMID 9585367 1998 "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 11314784 2001 Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 23224996 2013 The PMP22 gene and its related diseases.

PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

PMID 11140841 2000 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

PMID 21252112 2011 Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

PMID 21149811 2010 Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.

PMID 23965407 2013 Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.

rs104894623 in PMP22 gene and Hereditary liability to pressure palsies PMID 12796555 2003 HNPP due to a novel missense mutation of the PMP22 gene.

PMID 9748013 1998 A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

rs104894621 in PMP22 gene and Muscle hypotonia PMID 18698610 2008 Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

PMID 11523566 2001 EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 10369870 1999 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

PMID 12439896 2002 Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 18592125 2008 A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

PMID 10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

PMID 1523566 1992 [The reflexotherapy of patients with respiratory allergoses].

PMID 24646194 2014 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

PMID 23781966 2013 Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

PMID 23224996 2013 The PMP22 gene and its related diseases.

PMID 26076881 2015 Molecular and clinical features of inherited neuropathies due to PMP22 duplication.

PMID 24726093 2014 Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

PMID 24534835 2014 Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 24668782 2014 Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

PMID 9543325 1998 Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.