How to Cite this Article: Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. 2012. Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome. Am J Med Genet Part A 158A:182–187.
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome†
Version of Record online: 21 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 182–187, January 2012
How to Cite
Gillis, J., Burashnikov, E., Antzelevitch, C., Blaser, S., Gross, G., Turner, L., Babul-Hirji, R. and Chitayat, D. (2012), Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome. Am. J. Med. Genet., 158A: 182–187. doi: 10.1002/ajmg.a.34355
- Issue online: 19 DEC 2011
- Version of Record online: 21 NOV 2011
- Manuscript Accepted: 25 SEP 2011
- Manuscript Received: 1 JUN 2011
- NHLBI (CA). Grant Number: HL47678
- New York State and Florida Grand Lodges of Free and Accepted Masons
- autosomal dominant;
- long QT;
- Timothy syndrome
Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. Splawski et al.  previously described two phenotypes associated with TS distinguished by two unique and different mutations within the CACNA1C gene. We report on a newborn who presented with prolonged QT interval and associated polymorphic ventricular tachycardia, dysmorphic facial features, syndactyly of the hands and feet, and joint contractures, suggestive of TS. He developed a stroke, subsequent intractable seizures, and was found to have cortical blindness and later profound developmental delay. Initial targeted mutation analysis did not identify either of the previously described TS associated mutations; however, full gene sequencing detected a novel CACNA1C gene mutation (p.Ala1473Gly). The clinical and genetic findings in our case expand both the clinical and molecular knowledge of TS. © 2011 Wiley Periodicals, Inc.