IMR Press / FBL / Volume 5 / Issue 3 / DOI: 10.2741/nanni

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.

Molecular genetics of holoprosencephaly
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1 The Children's Hospital of Philadelphia, Departments of Pediatrics, Genetics and Neurology, University of Pennsylvania School of Medicine, 34th and Civic Center Boulevard, PA 19104-4399, USA
2 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10, 10C101, Bethesda, MD 20892-1852, USA
3 State University of New York, Health Science Center of Syracuse, Department of Pathology, 750 East Adams Street, Syracuse, NY 13210, U.S.A.
Front. Biosci. (Landmark Ed) 2000, 5(3), 334–342;
Published: 1 March 2000

Holoprosencephaly (HPE) is a common developmental defect of the human forebrain and midface. Pathological studies have identified different categories of severity of the brain and craniofacial malformations observed in HPE, although the variable clinical spectrum of HPE extends in unbroken sequence from alobar HPE and cyclopia to clinically unaffected carriers in familial HPE. The etiology of HPE is extremely heterogeneous including both environmental and genetic causes. Here we focus on molecular aspects of HPE in light of the recent identification of some of the genes causing human HPE and other candidate genes involved in forebrain development, through different approaches, such as positional cloning and functional cloning, based on animal models. These approaches will aid in the identification of additional genes involved in HPE and in a better understanding of the molecular genetics of brain development.

Forebrain development
Sonic Hedgehog
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