DI-CMT/Chromosone 19 - Research from Australia

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Abstract from Neurogenetics 2003 May 22

Refined localization of dominant intermediate Charcot-Marie-Tooth

neuropathy and exclusion of seven known candidate genes in the region.

Zhu D, Kennerson M, Merory J, Chrast R, Verheijen M, Lemke G, Nicholson

G.

Neurobiology Laboratory, ANZAC Research Institute, Concord Hospital, New

South Wales, Australia.

Charcot-Marie-Tooth (CMT) neuropathy is one of the most common

hereditary disorders of the human peripheral nervous system. The CMT

syndrome includes weakness and atrophy of distal muscles, high arched

feet (pes cavus), depressed or absent deep tendon reflexes, and mild

sensory loss. Dominant intermediate CMT (DI-CMT) neuropathy is a form of

CMT with intermediate median motor nerve conduction velocities. We

previously

localized the DI-CMT locus to a 16.8-cM region on chromosome

19p12-p13.2. Extended haplotype analysis and clinical assessment of

additional family members and a report of a second family linked to this

locus has enabled us to narrow the candidate region to a 6-cM interval

flanked by D19S558 and D19S432. Selection of positional candidate genes

for screening was performed on the basis of neural expression and

microarray analysis of Schwann cell differentiation in vivo. Seven

candidate genes have been

investigated. These include six genes localized in the original linkage

interval

and one in the newly refined region. They are excluded as a cause for

DI-CMT neuropathy.