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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Jan 1995; 32(1): 44–47.
PMCID: PMC1050178

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.

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Selected References

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  • de Silva SM, Kuncl RW, Griffin JW, Cornblath DR, Chavoustie S. Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. Muscle Nerve. 1990 Jan;13(1):21–26. [PubMed]
  • Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 1990 Nov 16;250(4983):1000–1002. [PubMed]
  • Ebers GC, George AL, Barchi RL, Ting-Passador SS, Kallen RG, Lathrop GM, Beckmann JS, Hahn AF, Brown WF, Campbell RD, et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neurol. 1991 Dec;30(6):810–816. [PubMed]
  • Koch MC, Ricker K, Otto M, Grimm T, Bender K, Zoll B, Harper PS, Lehmann-Horn F, Rüdel R, Hoffman EP. Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Hum Genet. 1991 Nov;88(1):71–74. [PubMed]
  • Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb;42(2):431–433. [PubMed]
  • Ptácek LJ, George AL, Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 1992 May;8(5):891–897. [PubMed]
  • Ropers HH, Szliwowski HB. Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation? Hum Genet. 1979 Apr 17;48(1):113–116. [PubMed]
  • Brouwer OF, Zwarts MJ, Links TP, Wintzen AR. Muscle fiber conduction velocity in the diagnosis of sporadic hypokalemic periodic paralysis. Clin Neurol Neurosurg. 1992;94(2):149–151. [PubMed]
  • Links TP, Zwarts MJ, Wilmink JT, Molenaar WM, Oosterhuis HJ. Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects. Brain. 1990 Dec;113(Pt 6):1873–1889. [PubMed]
  • Schipperheyn JJ, Buruma OJ. Familial periodic paralysis: low muscle potassium permeability or high sodium permeability? Ann Neurol. 1983 Jun;13(6):686–686. [PubMed]
  • Rüdel R, Lehmann-Horn F, Ricker K, Küther G. Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters. Muscle Nerve. 1984 Feb;7(2):110–120. [PubMed]
  • Layzer RB. Periodic paralysis and the sodium-potassium pump. Ann Neurol. 1982 Jun;11(6):547–552. [PubMed]
  • Gordon AM, Green JR, Lagunoff D. Studies on a patient with hypokalemic familial periodic paralysis. Am J Med. 1970 Feb;48(2):185–195. [PubMed]
  • Fontaine B, Vale-Santos J, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimarães J, Weissenbach J, et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet. 1994 Mar;6(3):267–272. [PubMed]
  • Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell. 1994 Jun 17;77(6):863–868. [PubMed]
  • Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet. 1994 Aug;3(8):1415–1419. [PubMed]
  • Zwarts MJ, van Weerden TW, Links TP, Haenen HT, Oosterhuis HJ. The muscle fiber conduction velocity and power spectra in familial hypokalemic periodic paralysis. Muscle Nerve. 1988 Feb;11(2):166–173. [PubMed]
  • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed]
  • Ophoff RA, van Eijk R, Sandkuijl LA, Terwindt GM, Grubben CP, Haan J, Lindhout D, Ferrari MD, Frants RR. Genetic heterogeneity of familial hemiplegic migraine. Genomics. 1994 Jul 1;22(1):21–26. [PubMed]
  • Iles DE, Segers B, Olde Weghuis D, Suijkerbuijk R, Mikala G, Schwartz A, Wieringa B. Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization. Genomics. 1994 Feb;19(3):561–563. [PubMed]
  • Gregg RG, Couch F, Hogan K, Powers PA. Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. Genomics. 1993 Jan;15(1):107–112. [PubMed]
  • Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. [PMC free article] [PubMed]
  • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed]
  • Miller RJ. Voltage-sensitive Ca2+ channels. J Biol Chem. 1992 Jan 25;267(3):1403–1406. [PubMed]
  • Perez-Reyes E, Kim HS, Lacerda AE, Horne W, Wei XY, Rampe D, Campbell KP, Brown AM, Birnbaumer L. Induction of calcium currents by the expression of the alpha 1-subunit of the dihydropyridine receptor from skeletal muscle. Nature. 1989 Jul 20;340(6230):233–236. [PubMed]
  • Tanabe T, Beam KG, Powell JA, Numa S. Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA. Nature. 1988 Nov 10;336(6195):134–139. [PubMed]
  • GLUECKSOHN-WAELSCH S. LETHAL GENES AND ANALYSIS OF DIFFERENTIATION. Science. 1963 Dec 6;142(3597):1269–1276. [PubMed]
  • Engel AG, Lambert EH. Calcium activation of electrically inexcitable muscle fibers in primary hypokalemic periodic paralysis. Neurology. 1969 Sep;19(9):851–858. [PubMed]
  • Weller RO, McArdle B. Calcification within muscle fibres in the periodic paralyses. Brain. 1971;94(2):263–272. [PubMed]

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