The CMT syndrome is the most common form of HPN, and most of which are caused by a 1.5 Mb deletion encompassing the PMP22
. The deletions and duplications of PMP22
were first excluded using the MLPA.
Thus, we have demonstrated that the genes which are highly specific for peripheral myelin differently respond to SCI and hUCB-MC transplantation that is confirmed by different levels of the mpz, pmp2, and pmp22
mRNA expression in the experimental groups.
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.
Molecular dynamics simulation of the wild type PMP22
protein and the most deleterious mutant to examine the molecular and structural basis of predicted disease-associated nsSNPs is performed.
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 17p11.2 region.
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.
A duplication/deletion of 1.4 Mbp in length on 17p12 (including PMP22
), which is the most frequent genetic cause of CMT, was pre-screened by genotyping six microsatellites within the 17p12 (22) and quantitative real-time PCR for PMP22
These patients were negative for pathogenic variants of PMP22
, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL , and RAB7 .
CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22
) gene accounting for more than half of all the CMT cases.
38 and 39) presented a wide heterozygous deletion and a duplication, respectively, both of which involved the PMP22
(peripheral myelin protein 22) and other flanking genes (see Fig.