A locus for juvenile myoclonic epilepsy maps to 2q33-q36

Hum Genet. 2010 Aug;128(2):123-30. doi: 10.1007/s00439-010-0831-6. Epub 2010 May 14.

Abstract

We performed a whole genome linkage analysis in a three-generation south Indian family with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two-point LOD score obtained was 3.32 at recombination fraction (theta) = 0 for D2S2248. The highest multipoint score of 3.59 was observed for the genomic interval between D2S2322 and D2S2228 at the chromosomal region 2q33-q36. Proximal and distal boundaries of the critical genetic interval were defined by D2S116 and D2S2390, respectively. A 24-Mb haplotype was found to co-segregate with JME in the family. While any potentially causative variant in the functional candidate genes, SLC4A3, SLC23A3, SLC11A1 and KCNE4, was not detected, we propose to examine brain-expressed NRP2, MAP2, PAX3, GPR1, TNS1 and DNPEP, and other such positional candidate genes to identify the disease-causing gene for the disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / physiopathology
  • Cation Transport Proteins
  • Genes
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Lod Score
  • Myoclonic Epilepsy, Juvenile / genetics*
  • Myoclonic Epilepsy, Juvenile / physiopathology

Substances

  • Cation Transport Proteins
  • natural resistance-associated macrophage protein 1