Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6

K. A. Weissbecker, M. Durner, D. Janz, A. Scaramelli, R. S. Sparkes, M. A. Spence

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144 Scopus citations

Abstract

Juvenile myoclonic epilepsy (JME) is a generalized, non-progressive epilepsy characterized by an adolescent onset of sudden, involuntary myoclonic jerks. Greenberg et al. (American Journal of Medical Genetics 31:185-192, 1988b; Cytogenetics and Cell Genetics 51:1008, 1989b) reported tight linkage of a JME locus to the HLA region of chromosome 6p. We confirm this linkage assignment, although at a larger recombination fraction than previously reported. Twenty-three, mostly nuclear, families were ascertained through a JME proband. The affected status of relatives of the probands was assigned by 4 different clinical criteria, and separate analyses were done assuming an autosomal dominant model with 90% penetrance and an autosomal recessive model with full penetrance. A linear age-of-onset correction with maximum penetrance at age 20 years was incorporated into the analyses. The maximum lod score obtained was 3.11 at Θ(m) = 0.001, Θ(f) = 0.20, assuming autosomal dominant inheritance and using the second definition of the disease phenotype. There was strong support for linkage using the other phenotype definitions and the autosomal dominant model, although the lod scores did not exceed 3.0. There was also support for linkage of a JME locus to this region under the autosomal recessive model, although the results varied depending upon the definition of the disease phenotype. There was no significant evidence for linkage heterogeneity.

Original languageEnglish
Pages (from-to)32-36
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume38
Issue number1
DOIs
StatePublished - 1991
Externally publishedYes

Keywords

  • EEG
  • impulsive petit mal epilepsy
  • juvenile myoclonic epilepsy
  • linkage analysis

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