Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555.

Abstract

While disorders of neuronal migration are associated with as much as 25% of recurrent childhood seizures, few of the genes required to establish neuronal position in cerebral cortex are known. Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration disorders producing epilepsy and variable cognitive impairment, can be inherited alone or together in a single pedigree. Here we report a new genetic locus, XLIS, mapped by linkage analysis of five families and physical mapping of a balanced X;2 translocation in a girl with LIS. Linkage places the critical region in Xq21-q24, containing the breakpoint that maps to Xq22.3-q23 by high-resolution chromosome analysis. Markers used for somatic cell hybrid and fluorescence in situ hybridization analyses place the XLIS region within a 1 cM interval. These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, XLIS, that the milder SBH phenotype in females results from random X-inactivation (Lyonization), and that cloning of genes from the breakpoint region on X will yield XLIS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics
  • Dosage Compensation, Genetic
  • Epilepsy / etiology
  • Epilepsy / genetics
  • Female
  • Genetic Linkage*
  • Humans
  • Hybrid Cells
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Pedigree
  • Phenotype
  • Restriction Mapping
  • Sex Chromosome Aberrations / genetics*
  • Translocation, Genetic
  • X Chromosome / genetics*