title: Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved.
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 alpha 2/delta-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.
authors.affiliation: Department of Pediatrics, University of Padua, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Mammi
authors.forename: D E
authors.initials: DE
authors.lastname: Iles
authors.forename: D
authors.initials: D
authors.lastname: Smeets
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
mesh_terms: D000293:Adolescent; D000758:Anesthesia / Q000009:adverse effects*; D015220:Calcium Channels / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D006579:Heterozygote; D006706:Homeostasis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008305:Malignant Hyperthermia / Q000209:etiology* / Q000235:genetics; D018980:Williams Syndrome / Q000150:complications / Q000235:genetics*
chemical_list: D015220:Calcium Channels