Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 6, Pages 558-563Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31618
Keywords
reciprocal translocation; neurodevelopment; seizures; synaptotagmin
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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, rnacrocephaly 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 neuro-transmission and hormone-responsiveness, SYT14 is an intriguing candidate gene for the abnormal development in this child. This is the first known constitutional rearrangement of S)714, and further systematic genetic analysis and clinical studies of DGAP128 may offer unique insights into the role of SYT14 in neurodevelopment. (c) 2007 Wiley-Liss, Inc.
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