Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.
Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHMN-VII confirmed the location of the gene and provided evidence for a founder mutation segregating in both pedigrees. The maximum three-point LOD score in the combined pedigree was 7.49 at D2S274. Expansion of a polyalanine tract in Engrailed-1, a transcription factor strongly expressed in the spinal cord, was excluded as the cause of dHMN-VII.
McEntagart
M
M
Institute of Medical Genetics, University Hospital of Wales, Cardiff CF4 4XW, United Kingdom.
Norton
N
N
Williams
H
H
Teare
M D
MD
Dunstan
M
M
Baker
P
P
Houlden
H
H
Reilly
M
M
Wood
N
N
Harper
P S
PS
Futreal
P A
PA
Williams
N
N
Rahman
N
N
D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010455:Peptides / Q000235:genetics; D014827:Vocal Cords / Q000378:metabolism / Q000503:physiopathology; D014852:Wales
C513076:EN1 protein, human; D018398:Homeodomain Proteins; D010455:Peptides; C019529:polyalanine