X-linked malformations of neuronal migration.


Journal Article (Review)

Malformations of neuronal migration such as lissencephaly (agyria-pachygyria spectrum) are well-known causes of mental retardation and epilepsy that are often genetic. For example, isolated lissencephaly sequence and Miller-Dieker syndrome are caused by deletions involving a lissencephaly gene in chromosome 17p13.3, while many other malformation syndromes have autosomal recessive inheritance. In this paper, we review evidence supporting the existence of two distinct X-linked malformations of neuronal migration. X-linked lissencephaly and subcortical band heterotopia (XLIS) presents with sporadic or familial mental retardation and epilepsy. The brain malformation varies from classical lissencephaly, which is observed in males, to subcortical band heterotopia, which is observed primarily in females. The XLIS gene is located in chromosome Xq22.3 based on the breakpoint of an X-autosomal translocation. Bilateral periventricular nodular heterotopia (BPNH) usually presents with sporadic or familial epilepsy with normal intelligence, primarily in females, although we have evaluated two boys with BPNH and severe mental retardation. The gene for BPNH has been mapped to chromosome Xq28 based on linkage studies in multiplex families and observation of a subtle structural abnormality in one of the boys with BPNH and severe mental retardation.

Full Text

Duke Authors

Cited Authors

  • Dobyns, WB; Andermann, E; Andermann, F; Czapansky-Beilman, D; Dubeau, F; Dulac, O; Guerrini, R; Hirsch, B; Ledbetter, DH; Lee, NS; Motte, J; Pinard, JM; Radtke, RA; Ross, ME; Tampieri, D; Walsh, CA; Truwit, CL

Published Date

  • August 1996

Published In

Volume / Issue

  • 47 / 2

Start / End Page

  • 331 - 339

PubMed ID

  • 8757001

Pubmed Central ID

  • 8757001

International Standard Serial Number (ISSN)

  • 0028-3878

Digital Object Identifier (DOI)

  • 10.1212/wnl.47.2.331


  • eng

Conference Location

  • United States