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X-linked malformations of cortical development.

R J Leventer1, P L Mills, W B Dobyns

  • 1Royal Children's Hospital in Melbourne, Australia.

American Journal of Medical Genetics
|July 14, 2001
PubMed
Summary
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This review covers four X-linked cortical malformation syndromes, including bilateral periventricular nodular heterotopia and X-linked lissencephaly. These genetic disorders cause significant neurological deficits such as epilepsy and mental retardation.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Cortical malformations are key causes of neurological deficits, including mental retardation and epilepsy.
  • These malformations can be isolated or part of broader genetic syndromes.
  • Genetic studies have identified numerous human cortical malformations and their underlying causes.

Purpose of the Study:

  • To review four specific cortical malformation syndromes with X-linked inheritance patterns.
  • To highlight the genetic basis and molecular insights into these developmental disorders.
  • To provide an overview of bilateral periventricular nodular heterotopia, X-linked lissencephaly/subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia, and X-linked bilateral perisylvian polymicrogyria.

Main Methods:

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  • Review of existing literature on human cortical malformations.
  • Analysis of studies on informative families and sporadic patients.
  • Examination of genetic data, including chromosomal rearrangements and deletions.

    • Main Results:

    • Identification and classification of numerous human cortical malformations.
    • Demonstration of a genetic basis for many of these disorders through family and patient studies.
    • Advancement in precise genetic diagnosis and understanding of molecular mechanisms.

    Conclusions:

    • X-linked inheritance is implicated in several cortical malformation syndromes.
    • Understanding the genetic basis is crucial for diagnosis and potential therapeutic strategies.
    • Further research into these specific syndromes (e.g., bilateral periventricular nodular heterotopia, X-linked lissencephaly) can elucidate developmental pathways.