Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Othmane, KB; Johnson, E; Menold, M; Graham, FL; Hamida, MB; Hasegawa, O; Rogala, AD; Ohnishi, A; Pericak-Vance, M; Hentati, F; Vance, JM

Published Date

  • December 15, 1999

Published In

Volume / Issue

  • 62 / 3

Start / End Page

  • 344 - 349

PubMed ID

  • 10644431

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1006/geno.1999.6028


  • eng

Conference Location

  • United States