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© 1994 Oxford University Press

OTHER

Localization of the gene encoding the {alpha}2/{delta}-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families

D.E. Iles*, F. Lehmann-Horn1, S.W. Scherer2,3, L.-C. Tsui2,3, D.Olde Weghuis4, R.F. Suijkerbuijk4, L. Heytens5, G. Mikala6, A. Schwartz6, F.R. Ellis7, A.D. Stewart8, T. Deufel9 and B. Wieringa

Department of Cell Biology and Histology and Faculty of Medical Sciences, Catholic University of Nijmegen PO Box 9101, 6500 HB Nijmegen, The Netherlands 1Department of Applied Physiology, University of Ulm D-89069 Ulm, Germany 2Department of Genetics, The Hospital for Sick Children Toronto, Ontario M5G 1X8, Canada 3Department of Molecular and Medical Genetics, University of Toronto Ontario M5S 1A8, Canada 4Department of Human Genetics, Faculty of Medical Sciences, Catholic University of Nijmegen PO Box 9101, 6500 HB Nijmegen, The Netherlands 5Department of Intensive Care, University Hospital of Antwerp B2650 Edegem, Belgium 6Department of Pharmacology and Cell Biophysics, University of Cincinnati College of Medicine Cincinnati, OH 45267-0575, USA 7Academic Unit of Anaesthesia, St James's University Hospital Leeds LS9 7TF, UK 8Department of Genetics, University of Leeds Leeds LS2 9JT, UK 9Klinik und Poliklinik fur Kinderheilkunde D-48129 Münster, Germany

*To whom correspondence should be addressed

Received March 3, 1994; Revised April 15, 1994; Accepted April 15, 1994

Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic agents. This demonstration of genetic heterogeneity in MHS prompted the investigation of the roles played by calcium regulatory proteins other than the ryanodine receptor (RYR1), which is known to be linked to MHS in fewer than half of the European MHS families studies to date. Previously, we have excluded the genes encoding the skeletal muscle L-type voltage-dependent calcium channel {alpha}1-, ß1-and {gamma}-subunits as candidates for MHS. In this report, we describe the cloning and partial DNA sequence analysis of the gene encoding the {alpha}2/{delta}-subunits, CACNL2A, and its localization onthe proximal long arm of chromosome 7q. A new dinucleotide repeat marker close to CACNL2A was identified at the D7S849 locus and tested for linkage in six MHS families. D7S849 and flanking genetic markers were found to co-segregate with the MHS locus through 11 meioses in one, three-generation family. These results suggest that mutations in or near CACNL2A may be involved in some forms of this heterogeneous disorder.


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