Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24.
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.
McEntagart
Meriel E
ME
Department of Medical Genetics, St. George's Hospital Medical School, London, United Kingdom.
Reid
Sarah L
SL
Irrthum
Alexandre
A
Irtthum
Alexandre
A
Douglas
Jenny B
JB
Eyre
Keith E D
KE
Donaghy
Michael J
MJ
Anderson
Neil E
NE
Rahman
Nazneen
N
D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009431:Neural Conduction; D010375:Pedigree