HMSN/CMTAR Russe/Roma Families Research - from Australia

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Abstract Neuromuscular Disorders. 2003 Nov;13(9):729-36.

Refined mapping of the HMSNR critical gene region-construction of a

high-density integrated genetic and physical map.

Hantke J, T, French L, Tournev I, Guergueltcheva V, Urtizberea

JA, Colomer J, Corches A, Lupu C, Merlini L, PK, Kalaydjieva L.

Western Australian Institute for Medical Research and Centre for Medical

Research, University of Western Australia, Perth, Australia

Hereditary motor and sensory neuropathy russe, a form of autosomal

recessive Charcot-Marie-Tooth disease, is a rare disorder found in

several Roma families from Europe. The gene has been mapped to a 1Mb

region on 10q22. Detailed analysis led to the exclusion of 22 candidate

genes and the assembly of a high-density genetic map

comprising 141 polymorphic markers. Extensive genotyping in an extended

sample of affected families resulted in a 10-fold reduction of the

critical hereditary motor and sensory neuropathy russe gene region,

which is now contained within a single completely sequenced BAC clone.

The fact that no sequence variant has been detected in the known genes

in the critical region indicates that the hereditary motor and sensory

neuropathy russe mutation affects a novel gene that remains to be

identified.