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

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

Research output: Contribution to journalArticle

66 Scopus citations

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. (C) 1999 Academic Press.

Original languageEnglish (US)
Pages (from-to)344-349
Number of pages6
JournalGenomics
Volume62
Issue number3
DOIs
StatePublished - Dec 15 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Ben Othmane, K., Johnson, E., Menold, M., Graham, F. L., Ben Hamida, M., Hasegawa, O., Rogala, A. D., Ohnishi, A., Pericak-Vance, M., Hentati, F., & Vance, J. M. (1999). Identification of a new locus for autosomal recessive Charcot-Marie- Tooth disease with focally folded myelin on chromosome 11p15. Genomics, 62(3), 344-349. https://doi.org/10.1006/geno.1999.6028