Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15 |
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Authors: | Kamel Ben Othmane Ellen Johnson Marisa Menold Felicia L. Graham Mongi Ben Hamida Osamu Hasegawa Allison D. Rogala Akio Ohnishi Margaret Pericak-Vance Faycal Hentati Jeffery M. Vance |
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Affiliation: | a Division of Neurology, Department of Medicine, Duke University Medical Center, Durham, North Carolina, 27710-2903;b Section of Medical Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina, 27710-2903;c Institute of Neurology, Tunis, Tunisia;d Department of Neurology, Yokohama City University School of Medicine, Yokohama, Japan;e Division of Neurology, University of Occupational and Environmental Health School of Medicine, Kitakyushu, 807, Japan |
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Abstract: | Autosomal recessive Charcot–Marie–Tooth disease type 4B (CMT4B) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. A locus for CMT4B has previously been mapped to chromosome 11q23 in a southern Italian pedigree. We initially excluded linkage in two Tunisian families with CMT4B to chromosome 11q23, demonstrating genetic heterogeneity within the CMT4B phenotype. Subsequently, using homozygosity mapping and linkage analysis in the largest Tunisian pedigree, we mapped a new locus to chromosome 11p15. A maximum two-point lod score of 6.05 was obtained with the marker D11S1329. Recombination events refined the CMT4B locus region to a 5.6-cM interval between markers D11S1331 and D11S4194. The second Tunisian CMT4B family was excluded from linkage to the new locus, demonstrating the existence of at least a third locus for the CMT4B phenotype. |
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