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Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15
- Source :
- Journal of the neurological sciences. 161(1)
- Publication Year :
- 1999
-
Abstract
- Two separate disorders, autosomal dominant distal spinal muscular atrophy type V (dSMA-V) characterized by marked bilateral weakness in the hands and atrophy of thenar eminence and the first interosseous muscle, and Charcot-Marie-Tooth disease type 2D (CMT2D) characterized by sensory deficits in addition to the upper limb weakness and wasting, have been independently linked to chromosome 7p. We identified a multigenerational Mongolian kindred with 17 members affected with either dSMA-V or CMT2D and mapped both syndromes to the same region on chromosome 7p15. A maximum two-point lod score of 4.74 at recombination fraction zero was obtained with marker D7S474. Tight linkage without recombination was also detected with markers D7S526 and D7S632. A multipoint lod score of 6.07 suggested that the gene is located between markers D7S526 and D7S474. A single conserved haplotype was associated with dSMA-V and CMT2D. Based on informative recombination events, the disease locus was placed between markers D7S516 and D7S1514 within the 7p15 band. Data obtained from this study suggest that a single gene is responsible for both syndromes, dSMA-V and CMT2D, and extend our knowledge of the candidate region.
- Subjects :
- Adult
Male
Genetic Linkage
Locus (genetics)
Biology
Charcot-Marie-Tooth Disease Type 2D
Central nervous system disease
Muscular Atrophy, Spinal
Degenerative disease
Atrophy
Charcot-Marie-Tooth Disease
Chromosome Segregation
medicine
Humans
Genes, Dominant
Genetics
Haplotype
Chromosome
Chromosome Mapping
Anatomy
Middle Aged
medicine.disease
Pedigree
Neurology
Haplotypes
Female
Neurology (clinical)
Chromosomes, Human, Pair 7
Recombination Fraction
Subjects
Details
- ISSN :
- 0022510X
- Volume :
- 161
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of the neurological sciences
- Accession number :
- edsair.doi.dedup.....44aac855a1d378f456bff193addf5298