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British Journal of Anaesthesia, 2002, Vol. 88, No. 4 587-589
© 2002 The Board of Management and Trustees of the British Journal of Anaesthesia

Short Communications

No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population{dagger}

C. Brooks1, R. L. Robinson*,1, P. J. Halsall1 and P. M. Hopkins1

1MH Investigation Unit, Clinical Sciences Building, St James’ University Hospital, Leeds LS9 7TF, UK*Corresponding author

{dagger}Declaration of interest. This work was supported by donations from the British Malignant Hyperthermia Association.

Background. Malignant hyperthermia (MH) is an inherited, potentially fatal, pharmocogenetic disorder triggered by certain anaesthetic agents. In light of the reported genetic heterogeneity for the disorder and the recent introduction of DNA testing guidelines for the trait, we have assessed the role of the CACNA1S gene in MH susceptibility in UK patients. Linkage to this locus has previously been demonstrated in several European MH families.

Methods and results. We screened 200 unrelated MH-susceptible individuals for known CACNA1S mutations. With the aim to characterize further novel mutations at this locus, functionally relevant regions of the gene were also sequenced in 10 unrelated individuals from families where the involvement of other MH susceptibility loci was unlikely. No sequence variations were detected in any of the patients investigated.

Conclusions. Defects in CACNA1S are not a major cause of MH in the UK population. Diagnostic screening of this gene is unlikely to be of value to UK MH patients in the near future.

Br J Anaesth 2002; 88: 587–9


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