Holoprosencephaly: A paradigm for the complex genetics of brain development

Holoprosencephaly: A paradigm for the complex genetics of brain development

Holoprosencephaly (HPE) is the most common major developmental defect of the forebrain in humans. Clinical expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial HPE. Significant aetiological heterogeneity exists...

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Bibliographic Details
Published in:Journal of inherited metabolic disease Vol. 21; no. 5; pp. 481 - 497
Main Authors: Roessler, E., Muenke, M.
Format: Journal Article Conference Proceeding
Language:English
Published: Dordrecht Kluwer Academic Publishers 01-08-1998
Springer
Subjects:
Animals
Biological and medical sciences
Brain - abnormalities
Holoprosencephaly - genetics
Humans
Malformations of the nervous system
Medical sciences
Mutation
Neurology
Human
Arhinencephaly
Signal
Cell function
Review
Genetic determinism
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Summary:Holoprosencephaly (HPE) is the most common major developmental defect of the forebrain in humans. Clinical expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial HPE. Significant aetiological heterogeneity exists in HPE and includes both genetic and environmental causes. Recently, defects in the cell signalling pathway involving the Sonic Hedgehog (SHH) gene, as well as defects in the cholesterol biosynthesis, have been shown to cause HPE in humans. These discoveries and current genetic approaches serve as a paradigm for studying normal and abnormal brain morphogenesis.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005406719292