Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies

Charcot-Marie-Tooth (CMT) neuropathy represents a genetically heterogeneous group of diseases affecting the peripheral nervous system. We report genetic mapping of the disease to chromosome 16p13.1-p12.3, in two families with autosomal dominant CMT type 1C (CMT1C). Affected individuals in these fami...

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Bibliographic Details
Published in:American journal of human genetics 2002-01, Vol.70 (1), p.244-250
Main Authors: Street, Valerie A., Goldy, Jeff D., Golden, Alana S., Tempel, Bruce L, Bird, Thomas D., Chance, Phillip F.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Charcot-Marie-Tooth Disease - classification
Charcot-Marie-Tooth Disease - genetics
Chromosome Mapping
Chromosomes, Human, Pair 16 - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Demyelinating Diseases - classification
Demyelinating Diseases - genetics
Exons - genetics
Female
Genes, Dominant - genetics
Genetic Markers - genetics
Humans
Introns - genetics
Lod Score
Male
Medical sciences
Membrane Glycoproteins - genetics
Neurology
Pedigree
Recombination, Genetic - genetics
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Summary:Charcot-Marie-Tooth (CMT) neuropathy represents a genetically heterogeneous group of diseases affecting the peripheral nervous system. We report genetic mapping of the disease to chromosome 16p13.1-p12.3, in two families with autosomal dominant CMT type 1C (CMT1C). Affected individuals in these families manifest characteristic CMT symptoms, including high-arched feet, distal muscle weakness and atrophy, depressed deep-tendon reflexes, sensory impairment, slow nerve conduction velocities, and nerve demyelination. A maximal combined LOD score of 14.25 was obtained with marker D16S500. The combined haplotype analysis in these two families localizes the CMT1C gene within a 9-cM interval flanked by markers D16S519 and D16S764. The disease-linked haplotypes in these two pedigrees are not conserved, suggesting that the gene mutation underlying the disease in each family arose independently. The epithelial membrane protein 2 gene ( EMP2), which maps to chromosome 16p13.2, was evaluated as a candidate gene for CMT1C.
ISSN:0002-9297
1537-6605
DOI:10.1086/337943