Scientific article
Open access

Chorea-Acanthocytosis: genetic linkage to chromosome 9q21

Published inAmerican journal of human genetics, vol. 61, no. 4, p. 899-908
Publication date1997-10
First online date2008-01-09

Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rearrangements, we initiated a genomewide scan for linkage in 11 families, segregating for CHAC, who are of diverse geographical origin. We report here that the disease is linked, in all families, to a 6-cM region of chromosome 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum two-point LOD score of 7.1 (theta = .00) for D9S1867 was achieved, and the linked region has been confirmed by homozygosity-by-descent, in offspring from inbred families. These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene.

  • Acanthocytes / pathology
  • Adult
  • Age of Onset
  • Chorea / blood
  • Chorea / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Markers
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Recombination, Genetic
Affiliation Not a UNIGE publication
  • NINDS NIH HHS - [1P01 NS-26630]
  • Wellcome Trust -
Citation (ISO format)
RUBIO, Justin P. et al. Chorea-Acanthocytosis: genetic linkage to chromosome 9q21. In: American journal of human genetics, 1997, vol. 61, n° 4, p. 899–908. doi: 10.1086/514876
Main files (1)
Article (Published version)
ISSN of the journal0002-9297

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