CMT Type 2 Research update

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Abstract from Neurogenetics 2002 Oct;4(2):83-5

Reduction in the minimum candidate interval in the dominant-intermediate

form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

Speer MC, Graham FL, Bonner E, Collier K, Stajich JM, Gaskell PC,

Pericak-Vance MA, Vance JM.

Center for Human Genetics, Duke University Medical Center, Durham, North

Carolina 27710, USA.

As part of an on-going genomic screen of unlinked Charcot-Marie-Tooth

disease type 2 (CMT2) families, we identified 11 regions in the genome

with lod scores > or = 1.0. One of these regions was near the recently

identified CMTDI1 locus on 19q. We show evidence of linkage of DUK 1118

to this region and our data reduce the minimum candidate interval for

CMTDI1 to the 9-cM interval spanned by D19S586 and D19S432. We

also demonstrate that five additional CMT2 families are unlinked to 19q

markers, providing further evidence of CMT2 heterogeneity.