Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q

Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CMT4 type A (CMT4A) was selected from a series...

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Bibliographic Details
Published in:Human molecular genetics 1993-10, Vol.2 (10), p.1625-1628
Main Authors: Othmane, K.Ben, Hentatl, F., Lennon, F., Hamida, C.Ben, Blel, S., Roses, A.D., Pericak-Vance, M.A., Hamida, M.Ben, Vance, J.M.
Format: Article
Language:English
Subjects:
Age of Onset
Biological and medical sciences
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - classification
Charcot-Marie-Tooth Disease - epidemiology
Charcot-Marie-Tooth Disease - genetics
chromosome 8
Chromosomes, Human, Pair 8
CMT4A locus
Consanguinity
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Genes, Recessive
Genetic Linkage
Humans
Infant
linkage analysis
loci
Male
man
Medical sciences
Neurology
Pedigree
Tunisia - epidemiology
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Summary:Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CMT4 type A (CMT4A) was selected from a series of Tunisian CMT4 families according to the following electrophysiological and pathological criteria: slow motor nerve conduction velocity (MCV), severe hypomyelination upon nerve biopsy with basal lamina onion bulbs and no myeiin outfolding. In an attempt to localize the CMT4A locus, we studied four inbred families with 13 affected patients. Significant evidence for linkage was found for several markers from chromosome 8q13–21.1 (D8S279, D8S164, D8S286, D8S84, D8S275 and D8S167). An overall two point peak lod score of z(θ)=9.19 at θ=0.00(95% confidence limit 0.00–0.08) was obtained for D8S164. No evidence of genetic heterogeneity was found. The chromosomal localization of one form of CMT4 will have important implications in clarifying the nosology of this complex group of disorders.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/2.10.1625