A Meniere's disease gene linked to chromosome 12p12.3

Am J Med Genet B Neuropsychiatr Genet. 2006 Jul 5;141B(5):463-7. doi: 10.1002/ajmg.b.30347.

Abstract

Meniere's disease (MD) is characterized by spontaneous attacks of vertigo, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The majority of patients with MD appear sporadic but 5%-13% of the cases have a family history for the disease. The cause of both the sporadic and inherited forms of MD remains unclear despite a number of candidate genes defined from their association with hearing loss. We have performed a genome wide linkage scan on a large Swedish family segregating MD in five generations. Five candidate regions with a lod score of >1 were identified. Two additional families with autosomal dominant MD were analyzed for linkage to these regions and a cumulative Z(max) of 3.46 was obtained for a single region on chromosome 12p. In two of the three families, a shared haplotype was found to extend over 1.7 Mb which suggests a common ancestral origin. Within this region, a single recombination event restricts the candidate region to 463 kb.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping / methods*
  • Chromosomes, Human, Pair 12 / genetics*
  • Family Health
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Meniere Disease / genetics*
  • Microsatellite Repeats / genetics
  • Pedigree
  • Phosphatidylinositol 3-Kinases / genetics
  • Protein Subunits / genetics

Substances

  • Protein Subunits
  • Phosphatidylinositol 3-Kinases