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- Title
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
- Authors
Viollet, Louis; Zarhrate, Mohammed; Maystadt, Isabelle; Estournet-Mathiaut, Brigitte; Barois, Annie; Desguerre, Isabelle; Mayer, Michèle; Chabrol, Brigitte; LeHeup, Bruno; Cusin, Veronica; de Villemeur, Thierry Billette; Bonneau, Dominique; Saugier-Veber, Pascale; Villepin, Anne Touzery-de; Delaubier, Anne; Kaplan, Jocelyne; Jeanpierre, Marc; Feingold, Joshué; Munnich, Arnold
- Abstract
Chronic distal spinal muscular atrophy (Chronic DSMA, MIM *607088) is a rare autosomal recessive disorder characterized by a progressive motor weakness and muscular atrophy, predominating in the distal parts of the limbs. A form of Chronic DSMA gene has been previously mapped to chromosome 11q13 in the 10.3?cM interval defined by loci D11S1889 and D11S1321. By linkage analysis in 12 European Chronic DSMA families, we showed that a disease gene maps to chromosome 11q13.3 (Zmax=6.66 at ?=0.00 at the DSM4 locus) and suggested that this condition is genetically homogeneous. Recombination events allowed us to reduce the genetic interval to a 2.6?cM region, telomeric to the IGHMBP2 gene, excluding this gene as the disease causing gene in Chronic DSMA. Moreover, partial linkage disequilibrium was found between three rare alleles at loci D11S1369, DSM4 and D11S4184 and the mutant chromosome in European patients. Analysis of the markers at these loci strongly suggests that most Chronic DSMA chromosomes are derived from a single ancestor. Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations.European Journal of Human Genetics (2004) 12, 483-488. doi:10.1038/sj.ejhg.5201177 Published online 31 March 2004
- Subjects
SPINAL muscular atrophy; NEUROMUSCULAR diseases; CHROMOSOMES; HUMAN biology; HUMAN genetics; GENETICS
- Publication
European Journal of Human Genetics, 2004, Vol 12, Issue 6, p483
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201177