PMP22


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PMP22

A gene on chromosome 17p12 that encodes an integral membrane protein which is a major component of myelin in the peripheral nervous system, and appears to be involved in growth regulation and myelinisation of the peripheral nervous system.

Molecular pathology
PMP22 mutations are linked to Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies.
References in periodicals archive ?
These patients were negative for pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL , and RAB7 .
In mid-90s researchers executed the expansive dispensation of PMP22 ribonucleic acid (RNA) in various mesodermal and ectodermal tissues of growing mice also in the villi of the matured gut indicating a broader biologic importance for PMP22 in cell multiplication or specialisation.
Although the common disease-causing genes PMP22 and MPZ were not mutated in this case, the diagnosis is probably CMT1, because of the clinical and neurophysiological findings of demyelinating sensorimotor neuropathy in the patient and his mother.
However, hypertelorism could also be attributed to the involvement of contiguous genes or to mutations in genes distinct from PMP22.
These sequences were less similar to human plasmolipin than the corresponding frog and pufferfish MAL and PMP22 proteins were to human counterparts (Table 1).
Candidate genes are going to be tested according to the phenotype; the duplication in chromosome 17, and mutations in PMP22, Cx32 and MPZ, as well as in other genes will be searched.
In this study, using targeted next-generation sequencing (NGS) technology, we identified a novel PMP22 missense mutation in an autosomal dominant demyelinating CMT family.
A specific example would be testing first for PMP22 duplications and deletions in a patient with neuropathy and an appropriate clinical presentation, before proceeding with testing for less prevalent mutations that can also cause hereditary neuropathy.
We also analyzed 50 patients with hereditary neuropathy with liability to pressure palsies (HNPP), who were hemizygous for the PMP22 region (34), as confirmed by the observation of a deletion-specific junction fragment obtained with probe pNEA102.
The gene encoding peripheral myelin protein 22 (PMP22) maps in this interval, and several lines of evidence have indicated that alterations in gene dosage of PMP22 are responsible for the pathogenesis of CMT1A [reviewed in Refs.
Although mutations within the PMP22 gene have been identified in some cases of CMT1A and HNPP, a gene dosage effect has been proposed as the principal underlying pathomechanism for development of CMT1A and HNPP (9-11).
the number of copies of a gene per somatic cell) of the PMP22 gene, a myelin gene involved in inherited neuropathies (1).