ARX mutations in X-linked lissencephaly with abnormal genitalia

Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba.

Abstract

X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in the Aristaless-related homeobox gene ARX. The authors assessed ARX as a candidate gene for XLAG in a genetic analysis of neuronal migration disorders and found two different point mutations in two XLAG pedigrees affecting the homeodomain of the protein, confirming that ARX is a causative gene for XLAG.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Substitution
  • Basal Ganglia / abnormalities
  • Cell Movement
  • Cerebral Cortex / abnormalities*
  • Cryptorchidism / genetics
  • DNA Mutational Analysis
  • Epilepsy / genetics
  • Fatal Outcome
  • Genitalia, Male / abnormalities*
  • Heart Defects, Congenital / genetics
  • Homeodomain Proteins / chemistry
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology*
  • Humans
  • Hypospadias / genetics
  • Infant, Newborn
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Microcephaly / genetics
  • Mutation, Missense
  • Pedigree
  • Point Mutation*
  • Protein Structure, Tertiary
  • Sequence Deletion
  • Structure-Activity Relationship
  • Transcription Factors / chemistry
  • Transcription Factors / deficiency
  • Transcription Factors / genetics
  • Transcription Factors / physiology*

Substances

  • ARX protein, human
  • Homeodomain Proteins
  • Transcription Factors