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PMP22Peripheral Myelin Protein 22
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5],[6],[7] The clinical features of PMP2- associated neuropathy were similar to PMP22 duplication.
Alterations of PMP22 gene dosage result in two different disease entities.
In most patients, duplication of the PMP22 gene produces the "classic" phenotype, which is characterized by an onset in the first 2 decades of life, distal weakness, sensory loss, foot deformities (such as a high arched foot and contracted toes), and absent ankle reflexes.
Hypertelorism in the presented patient could be a phenotypic manifestation of the PMP22 mutation but could also be explained by the involvement of contiguous genes that lie adjacent or distant to the PMP22 gene in the 17p11.
Among myelin-related proteins, MAL/plasmolipin and PMP22, but not CNP, have Ciona homologs
Intracellular retention in myelinating Schwann cells is probably the most common disease mechanism of PMP22 missense mutations (Naef and Suter 1999).
Dejerine-Sottas disease can be caused by abnormalities in the same genes that can cause two forms of type 1 CMT -- the PMP22 gene on chromosome 17 and the P gene on chromosome 1.
Among them, the heterozygous duplication of the peripheral myelin protein-22 ( PMP22 ) gene is mainly responsible for CMT1 patients.
The 2 most commonly ordered specific tests, PMP22 duplication/ deletion and Huntington disease, each performed well regarding their diagnostic yield.
The increased gene dosage of PMP22 caused by the duplication event is thought to be responsible for the pathogenesis of CMT1A, producing a peripheral neuropathy.
The positions of the PMP22 gene and of the polymorphic DNA markers most in use were assigned by BLAST analysis.