Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Autosomal recessive ataxias represent genetic and clinical heterogeneity. Unsteady gait is often accompanied by poor coordination of limbs, speech, and eye movements. To date, seven genes have been identified. In addition, five chromosomal loci have been localized in non-related families. Here, we r...

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Bibliographic Details
Published in:Human genetics 2003-08, Vol.113 (3), p.293-295
Main Authors: TRANEBJAERG, Lisbeth, TESLOVICH, Tanya M, JONES, Marypat, BARMADA, M. Michael, FAGERHEIM, Toril, DAHL, Arve, ESCOLAR, Diana M, TRENT, Jeffrey M, GILLANDERS, Elizabeth M, STEPHAN, Dietrich A
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Alcoholism and acute alcohol poisoning
Ataxia
Ataxia - genetics
Biological and medical sciences
Cancer
Child
Child, Preschool
chromosome 20
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 20 - genetics
Consanguinity
Female
Fluorescent Dyes
Genes
Genes, Recessive
Genetic aspects
Genetic research
Genetics
Genomes
Genomics
Haplotypes
Homozygote
Hospitals
Humans
Lod Score
Male
Medical sciences
Microsatellite Repeats
Middle Aged
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Norway
Pedigree
Research centers
Software
Toxicology
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Summary:Autosomal recessive ataxias represent genetic and clinical heterogeneity. Unsteady gait is often accompanied by poor coordination of limbs, speech, and eye movements. To date, seven genes have been identified. In addition, five chromosomal loci have been localized in non-related families. Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11-q13 in a large inbred Norwegian family with infantile non-progressive ataxia.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-003-0967-8