New Type 2L Research from China

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Abstract from Hum Genet. Mar 12 2004

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2

(CMT2L) maps to chromosome 12q24.

Tang BS, Luo W, Xia K, Xiao JF, Jiang H, Shen L, Tang JG, Zhao GH, Cai

F, Pan Q, Dai HP, Yang QD, Xia JH, Evgrafov OV.

National Laboratory of Medical Genetics of China, Central South

University, 410078, Changsha, Hunan, People's Republic of China.

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

neurological disorders with a prevalence estimated at 1/2500. The axonal

form of this disorder is referred to as Charcot-Marie-Tooth type 2

disease (CMT2). Recently, a large Chinese family with CMT2 was found in

the Hunan and Hubei provinces of China. The known loci for CMT1A, CMT2D,

CMT1B (the same locus is also responsible for CMT2I and CMT2J), CMT2A,

CMT2E, and CMT2F were excluded in this family by linkage analysis. A

genome-wide screening was then carried out, and the results revealed

linkage of CMT2 to a locus at chromosome 12q24. Haplotype construction

and analyses localized this novel locus to a 6.8-cM interval between

microsatellite markers D12S366 and D12S1611. The maximal two-point LOD

score of 6.35 and multipoint LOD score of 8.08 for marker D12S76 at a

recombination fraction ( theta) of 0 strongly supported linkage to this

locus. Thus, CMT2 neuropathy in this family represents a novel genetic

entity that we have designated as CMT2L.