Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2

M. L. Kennerson, D. Zhu, R. J.M. Gardner, E. Storey, J. Merory, S. P. Robertson, G. A. Nicholson

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

The hereditary disorders of peripheral nerve form one of the most common groups of human genetic diseases, collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis we have identified a new locus for a form of CMT that we have called "dominant intermediate CMT" (DI-CMT). A genomewide screen using 383 microsatellite markers showed strong linkage to the short arm of chromosome 19 (maximum LOD score 4.3, with a recombination fraction (θ) of 0, at D19S221 and maximum LOD Score 5.28, θ = 0, at D19S226). Haplotype analysis performed with 14 additional markers placed the DI-CMT locus within a 16.8-cM region flanked by the markers D19S586 and D19S546. Multipoint linkage analysis suggested the most likely location at D19S226 (maximum multipoint LOD score 6.77), within a 10-cM confidence interval. This study establishes the presence of a locus for DI-CMT on chromosome 19p12-p13.2.

Original languageEnglish
Pages (from-to)883-888
Number of pages6
JournalAmerican Journal of Human Genetics
Volume69
Issue number4
DOIs
Publication statusPublished - 2001
Externally publishedYes

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