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A combination of fluorescence in situ hybridization (FISH) and Southern blot analysis demonstrated disruption of a synaptotagmin gene (<jats:italic>SYT14<\/jats:italic>) at the 1q32 breakpoint. Expression of <jats:italic>SYT14<\/jats:italic> 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\u2010responsiveness, <jats:italic>SYT14<\/jats:italic> is an intriguing candidate gene for the abnormal development in this child. This is the first known constitutional rearrangement of <jats:italic>SYT14<\/jats:italic>, and further systematic genetic analysis and clinical studies of DGAP128 may offer unique insights into the role of <jats:italic>SYT14<\/jats:italic> in neurodevelopment. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31618","type":"journal-article","created":{"date-parts":[[2007,2,15]],"date-time":"2007-02-15T19:13:24Z","timestamp":1171566804000},"page":"558-563","source":"Crossref","is-referenced-by-count":18,"title":["Disruption of a synaptotagmin (<i>SYT14<\/i>) associated with neurodevelopmental abnormalities"],"prefix":"10.1002","volume":"143A","author":[{"given":"Fabiola","family":"Quintero\u2010Rivera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana 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