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.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 19 February 1996 / Revised: 16 March 1996
Rights and permissions
About this article
Cite this article
Mammi, I., Iles, D., Smeets, D. et al. Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved. Hum Genet 98, 317–320 (1996). https://doi.org/10.1007/s004390050214
Issue Date:
DOI: https://doi.org/10.1007/s004390050214