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Mutations in holoprosencephaly
1Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Human Mutation
|August 3, 2000
Summary
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.
- 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.