Human Molecular Genetics, Vol 6, 555-562, Copyright © 1997 by Oxford University Press
ME Ross, KM Allen, AK Srivastava, T Featherstone, JG Gleeson, B Hirsch, BN Harding, E Andermann, R Abdullah, M Berg, D Czapansky-Bielman, DJ Flanders, R Guerrini, J Motte, AP Mira, I Scheffer, S Berkovic, F Scaravilli, RA King, DH Ledbetter, D Schlessinger, WB Dobyns and CA Walsh
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.
ARTICLES
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain
Department of Neurology, UMHC, Minneapolis, MN 55455, USA.
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