title: Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.
abstract: Hypokalaemic periodic paralysis (HypoPP) is characterised by transient attacks of muscle weakness of varying duration and severity accompanied by a drop in serum potassium concentration during the attacks. The largest known HypoPP family is of Dutch origin and consists of 277 members in the last five generations, 55 of whom have HypoPP inherited in an autosomal dominant pattern. Forty-eight persons including 28 patients with a proven diagnosis of HypoPP were used for linkage analysis. Microsatellite markers were used to exclude 45 to 50% of the genome and linkage to chromosome 1q31-32 was found. No recombinants were found between HypoPP and D1S412 and a microsatellite contained within the DHP receptor alpha 1 subunit (CACLN1A3) gene. A previously reported G to A mutation causing an arginine to histidine substitution at residue 528 in the transmembrane segment IIS4 of the CACLN1A3 gene was shown in patients by restriction analysis of genomic PCR products.
authors.affiliation: MGC-Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands.
authors.forename: R H
authors.initials: RH
authors.lastname: Boerman
authors.forename: R A
authors.initials: RA
authors.lastname: Ophoff
authors.forename: T P
authors.initials: TP
authors.lastname: Links
authors.forename: R
authors.initials: R
authors.lastname: van Eijk
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: A
authors.initials: A
authors.lastname: Elbaz
authors.forename: J E
authors.initials: JE
authors.lastname: Vale-Santos
authors.forename: A R
authors.initials: AR
authors.lastname: Wintzen
authors.forename: J C
authors.initials: JC
authors.lastname: van Deutekom
authors.forename: D E
authors.initials: DE
authors.lastname: Isles
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics; D020746:Calcium Channels, L-Type; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D017931:DNA Primers; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006639:Histidine / Q000235:genetics; D006801:Humans; D007008:Hypokalemia / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009426:Netherlands; D010245:Paralyses, Familial Periodic / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011950:Receptors, Cholinergic / Q000235:genetics
chemical_list: D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D017931:DNA Primers; D009124:Muscle Proteins; D011950:Receptors, Cholinergic; D006639:Histidine; D001120:Arginine