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.
Article first published online: 26 JAN 2010
This article is a US Government work and, as such, is in the public domain in the United States of America. Published 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Holoprosencephaly
Volume 154C, Issue 1, pages 52–61, 15 February 2010
How to Cite
Roessler, E. and Muenke, M. (2010), The molecular genetics of holoprosencephaly. Am. J. Med. Genet., 154C: 52–61. doi: 10.1002/ajmg.c.30236
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.
- Issue published online: 26 JAN 2010
- Article first published online: 26 JAN 2010
- disease genes;
- multifactorial inheritance
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.