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The molecular genetics of holoprosencephaly

Authors

  • Erich Roessler,

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    • Dr. Roessler is a faculty member in the Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. His research interests include malformations of the forebrain associated with holoprosencephaly (HPE) as well as disturbances in organ sidedness, or laterality.

  • Maximilian Muenke

    Corresponding author
    • Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Building 35, Room 1B-203, Bethesda, MD 20892-3717.
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    • Dr. Muenke is the Branch Chief of the Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD and his research interests include holoprosencephaly, craniofacial malformation syndromes, and attention-deficit-hyperactivity disorder (ADHD).


  • This article is a US Government work and, as such, is in the public domain in the United States of America.

  • How to cite this article: Roessler E, Muenke M. 2010. The molecular genetics of holoprosencephaly. Am J Med Genet Part C Semin Med Genet 154C:52–61.

Abstract

Holoprosencephaly (HPE) has captivated the imagination of Man for millennia because its most extreme manifestation, the single-eyed cyclopic newborn infant, brings to mind the fantastical creature Cyclops from Greek mythology. Attempting to understand this common malformation of the forebrain in modern medical terms requires a systematic synthesis of genetic, cytogenetic, and environmental information typical for studies of a complex disorder. However, even with the advances in our understanding of HPE in recent years, there are significant obstacles remaining to fully understand its heterogeneity and extensive variability in phenotype. General lessons learned from HPE will likely be applicable to other malformation syndromes. Here we outline the common, and rare, genetic and environmental influences on this conserved developmental program of forebrain development and illustrate the similarities and differences between these malformations in humans and those of animal models. Published 2010 Wiley-Liss, Inc.

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