Confirmation of CMT/HMSN 2C locus at chromosome 12q23-q24.

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Abstract from Ann Neurol. 2005 Jan 24;57(2):293-297

Confirmation of a hereditary motor and sensory neuropathy IIC locus at

chromosome 12q23-q24.

McEntagart ME, Reid SL, Irtthum A, JB, Eyre KE, Donaghy MJ, NE,

Rahman N.

Department of Medical Genetics, St. 's Hospital Medical School, London.

Hereditary motor and sensory neuropathy type IIC (HMSN IIC) is an autosomal

dominant axonal neuropathy. The cardinal features include distal muscle wasting

and weakness, vocal cord paralysis, and mild sensory impairment. Recently, HMSN

IIC locus was mapped to chromosome 12q23-24. Two families affected by HMSN IIC

were identified and evaluated for linkage to this region. Segregation analysis

in both families was consistent with linkage to chromosome 12q23-24. Combined

analysis generated a multipoint LOD score of 2.1 at marker D12S1583 and refined

the HMSN IIC gene interval to the clinical and molecular findings are discussed.