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At least 739 records · Page 41Linked to original sources
PubMed1998

Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.

A 1.5 Mb duplication on chromosome 17p11.2 is typical for the great majority of patients suffering from Charcot-Marie-Tooth type 1A (CMT1A) disease. A female child of 4 years with clinical signs and symptoms of a demyelinating neuropathy was examined for the presence of this duplication. Analysis of MspI polymorphisms in DNA extracted from peripheral blood failed due to homozygosity for probes pVAW409R3a and pEW401HE. Also, no EcoRI/SacI 3.2 kb junction fragment or dosage difference with probe pLR7.8, characteristic of the CMT1A duplication, was found. However, fluorescence in situ hybridization (FISH) analysis with the PMP22 specific probe c132G8 revealed in peripheral blood lymphocytes 60% of interphase nuclei with CMT1A duplication indicating the probability of mosaicism. In interphase nuclei extracted from nerve tissue the duplication was detectable in 88%, in muscle tissue in 72% of the analyzed nuclei. This suggests the presence of a somatic CMT1A duplication mosaicism that can only be reliably detected by FISH. The early onset and severity of the phenotype indicates that the hypothesized somatic reversion is probably fixed to early developmental stages.

Age of Onset↗
PubMed2006

Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.

OBJECTIVE: To characterize a large family with X-linked Charcot-Marie-Tooth (CMT) neuropathy without mutations in the gap junction protein B1 (GJB1) gene, which has an unusual phenotype that is different in some aspects from classic CMTX1. METHODS: We tested CMT families consistent with X-linked inheritance for GJB1 mutations. We compared the largest family (CMT623) without GJB1 mutation and with linkage excluding the CMTX1 locus to CMTX1 and normal individuals. RESULTS: Only 51% of probable X-linked CMT families had mutations in GJB1. Family CMT623 shows linkage to Xq26.3-q27.1 (lod score z = 6.58), a region within the previously identified locus for CMTX3, Xq26-q28. Unlike CMTX1, affected males in family CMT623 report pain and paraesthesia before the onset of sensory loss, and women are usually asymptomatic. As in CMTX1, affected males have widely ranging intermediate motor conduction velocities. The coding regions of 14 positional candidate genes within the narrowed CMTX3 locus have been excluded for a pathogenic role in the disease. CONCLUSION: This study is the first to confirm the CMTX3 locus and to refine the genetic interval to a 5.7-Mb region flanked by the markers DXS1041 and DXS8106. GJB1 mutation-negative forms of X-linked CMT, such as CMTX3, may account for a significant proportion of X-linked CMT.

Adolescent↗
PubMed2004

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or X-linked demyelinating CMT. Three unrelated patients were homozygous for a novel R1070X mutation and presented early-onset but slowly progressive distal motor and sensory neuropathies. Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT.

Adult↗
PubMed1989

Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers.

We previously reported a large Charcot-Marie-Tooth family not linked to the Duffy blood group marker, supporting the existence of genetic heterogeneity in this neuropathy. In order to investigate the possibility of another disease locus on chromosome 1, we analyzed this family further, using DNA polymorphisms of 6 genes. Absence of linkage makes a second disease locus on chromosome 1 unlikely.

Charcot-Marie-Tooth Disease↗