How to Cite this Article: Wannasilp N, Solomon BD, Warren-Mora N, Clegg NJ, Delgado MR, Lacbawan F, Hu P, Winder TL, Roessler E, Muenke M. 2011. Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2. Am J Med Genet Part A 155:860–864.
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2†
Article first published online: 17 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 4, pages 860–864, April 2011
How to Cite
Wannasilp, N., Solomon, B. D., Warren-Mora, N., Clegg, N. J., Delgado, M. R., Lacbawan, F., Hu, P., Winder, T. L., Roessler, E. and Muenke, M. (2011), Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2. Am. J. Med. Genet., 155: 860–864. doi: 10.1002/ajmg.a.33903
- Issue published online: 24 MAR 2011
- Article first published online: 17 MAR 2011
- Manuscript Accepted: 23 DEC 2010
- Manuscript Received: 29 AUG 2010
- Division of Intramural Research
- National Human Genome Research Institute
- National Institutes of Health
- Department of Health and Human Services, United States of America
- Don and Linda Carter Foundation
- Crowley-Carter Foundation.
Holoprosencephaly (HPE) is the most common malformation of the human forebrain. Typical manifestations in affected patients include a characteristic pattern of structural brain and craniofacial anomalies. HPE may be caused by mutations in over 10 identified genes; the inheritance is traditionally viewed as autosomal dominant with highly variable expressivity and incomplete penetrance. We present the description of a family simultaneously segregating two novel variants in the HPE-associated genes, ZIC2 and GLI2, as well as the results of extensive population-based studies of the variant region in GLI2. This is the first time that multiple HPE-associated variants in these genes have been reported in one family, and raises important questions about how clinicians and researchers should view the inheritance of conditions such as HPE. © 2011 Wiley-Liss, Inc.