In the authors opinion individuals contributed equally to this work.
Mutation in Brief
Article first published online: 28 JAN 2009
This article is a US Government work and, as such, is in the public domain in the United States of America. Published in 2009 by Wiley-Liss, Inc.
Volume 30, Issue 4, pages E541–E554, April 2009
How to Cite
Roessler, E., Lacbawan, F., Dubourg, C., Paulussen, A., Herbergs, J., Hehr, U., Bendavid, C., Zhou, N., Ouspenskaia, M., Bale, S., Odent, S., David, V. and Muenke, M. (2009), The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum. Mutat., 30: E541–E554. doi: 10.1002/humu.20982
This article is a US Government work and, as such, is in the public domain in the United States of America.
Communicated by Jürgen Horst
- Issue published online: 20 MAR 2009
- Article first published online: 28 JAN 2009
- Manuscript Accepted: 5 JAN 2009
- Manuscript Received: 15 OCT 2008
- Cited By
- mutation spectrum;
Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that complete deficiency of the related murine Zic2 transcription factor can also be a contributing factor to variable midline deficiencies, presenting during mid-gastrulation, that could explain similar forebrain anomalies in this model system. Here we collect and summarize all available mutations in the human ZIC2 gene detected in HPE patients (21 published and 62 novel). Our analysis corroborates this mechanism proposed in mice by predicting loss-of-function as the likely pathogenetic mechanism common to most, if not all, of these mutations in HPE. Published 2009 Wiley-Liss, Inc.