Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved |
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| Authors: | Isabella Mammi David E Iles Dominique Smeets Maurizio Clementi R Tenconi |
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| Institution: | (1) Medical Genetics Service, Department of Pediatrics, University of Padua, via Giustiniani, I-335128 Padua, Italy Tel./Fax: +39-49-8213513, IT;(2) Department of Cell Biology and Histology, Faculty of Medical Sciences, Catholic University of Nijmegen, Nijmegen, The Netherlands, NL;(3) Department of Human Genetics, Faculty of Medical Sciences, Catholic University of Nijmegen, Nijmegen, The Netherlands, NL |
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| Abstract: | We present the case of a patient affected with Williams syndrome (WS), who developed a suspected malignant hyperthermia (MH)
reaction to general anesthesia. The proximity to the WS region of the gene encoding the L-type voltage-gated calcium channel
α2/δ-subunit (CACNL2A) on 7q11.23–q21.1, previously shown to be closely linked to some forms of MH susceptibility, prompted
us to investigate whether this gene is deleted in WS. Linkage studies and fluorescence in situ hybridization analysis demonstrated
that the CACNL2A locus is localized outside the WS deleted region.
Received: 19 February 1996 / Revised: 16 March 1996 |
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