How to cite this article: Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH. 2007. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Am J Med Genet Part A 143A:558–563.
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities†
Article first published online: 15 FEB 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 6, pages 558–563, 15 March 2007
How to Cite
Quintero-Rivera, F., Chan, A., Donovan, D. J., Gusella, J. F. and Ligon, A. H. (2007), Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Am. J. Med. Genet., 143A: 558–563. doi: 10.1002/ajmg.a.31618
- Issue published online: 22 FEB 2007
- Article first published online: 15 FEB 2007
- Manuscript Accepted: 6 NOV 2006
- Manuscript Received: 28 JUL 2006
- NIH. Grant Number: GM61354
- reciprocal translocation;
We report cytogenetic and molecular studies of a de novo, apparently balanced t(1;3)(q32.1;q25.1) identified in a 12-year-old female (designated DGAP128) with cerebral atrophy, macrocephaly seizures, and developmental delay. A combination of fluorescence in situ hybridization (FISH) and Southern blot analysis demonstrated disruption of a synaptotagmin gene (SYT14) at the 1q32 breakpoint. Expression of SYT14 in human brain was confirmed using Northern analysis. Because members of the synaptotagmin family of proteins function as sensors that link changes in calcium levels with a variety of biological processes, including neurotransmission and hormone-responsiveness, SYT14 is an intriguing candidate gene for the abnormal development in this child. This is the first known constitutional rearrangement of SYT14, and further systematic genetic analysis and clinical studies of DGAP128 may offer unique insights into the role of SYT14 in neurodevelopment. © 2007 Wiley-Liss, Inc.