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Related Experiment Videos

Mutations in holoprosencephaly.

D Wallis1, M Muenke

  • 1Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

Human Mutation
|August 3, 2000
PubMed
Summary
This summary is machine-generated.

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Holoprosencephaly (HPE) is a common brain defect where hemispheres fail to separate. This overview details known genes like SHH, ZIC2, SIX3, and TGIF causing HPE and their roles in forebrain development.

Area of Science:

  • Developmental biology
  • Human genetics
  • Neuroscience

Background:

  • Holoprosencephaly (HPE) is the most frequent human forebrain and midface developmental defect.
  • It results from the incomplete separation of the cerebral hemispheres during early embryonic development.
  • HPE is a heterogeneous condition with genetic and teratogenic causes.

Purpose of the Study:

  • To provide an overview of genes implicated in human holoprosencephaly.
  • To discuss the functional roles of these genes in forebrain development.
  • To summarize identified mutations and polymorphisms in these HPE-associated genes.

Main Methods:

  • Literature review of genetic factors in holoprosencephaly.
  • Analysis of gene function in forebrain patterning.

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  • Compilation of mutation and polymorphism data.

    • Main Results:

    • Several genes, including Sonic Hedgehog (SHH), ZIC2, SIX3, and TGIF, are identified as causes of HPE.
    • These genes play critical roles in the specification and formation of the developing forebrain.
    • At least 12 different loci have been associated with HPE, highlighting genetic heterogeneity.

    Conclusions:

    • Genetic factors are significant contributors to the etiology of holoprosencephaly.
    • Understanding these genes provides insight into forebrain development and HPE pathogenesis.
    • Further research into gene mutations and polymorphisms is crucial for understanding HPE.