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Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

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Abstract

Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases known to involve an abnormal function of ion channels. The latter includes hypokalemic and hyperkalemic periodic paralyses, and non-dystrophic myotonias. We recently showed genetic linkage of hypoPP to loci on chromosome 1q31-32, co-localized with the DHP-sensitive calcium channel CACNL1A3. We propose to term this locus hypoPP-1. Using extended haplotypes with new markers located on chromosome 1q31-32, we now report the detailed mapping of hypoPP-1 within a 7 cM interval. Two recombinants between hypoPP-1 and the flanking markers D1S413 and D1S510 should help to reduce further the hypoPP-1 interval. We used this new information to demonstrate that a large family of French origin displaying hypoPP is not genetically linked to hypoPP-1. We excluded genetic linkage over the entire hypoPP-1 interval showing for the first time genetic heterogeneity in hypoPP.

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Authors and Affiliations

  1. INSERM U134, Hôpital de la Salpêtrière, 47 boulevard de l'Hôpital, F-75013, Paris, France

    Emmanuelle Plassart, Alexis Elbaz, Jose Vale Santos, Jocelyne Reboul & Pascale Lapie

  2. Serviço Neurologia, Hospital de Egaz Moniz, P-1300, Lisboa, Portugal

    Jose Vale Santos & Joao Guimaraes

  3. Départment de Néphrologie, Hôpital Necker, F-75015, Paris, France

    Dominique Chauveau

  4. Abteilung für Angewandte Physiologie, Universität Ulm, D-89081, Ulm, Germany

    Karin Jurkat-Rott & Frank Lehmann-Horn

  5. Départment de Pédiatrie, Hôpital Necker, F-75015, Paris, France

    Jean-Marie Saudubray

  6. Institut Pasteur, F-75015, Paris

    Jean Weissenbach

  7. Généthon, F-91 000, Evry, France

    Jean Weissenbach

  8. Fédération de Neurologie, Hôpital de la Salpêtrière, F-75013, Paris, France

    Bertrand Fontaine

Authors
  1. Emmanuelle Plassart
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  2. Alexis Elbaz
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  3. Jose Vale Santos
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  4. Jocelyne Reboul
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  5. Pascale Lapie
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  6. Dominique Chauveau
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  7. Karin Jurkat-Rott
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  8. Joao Guimaraes
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  9. Jean-Marie Saudubray
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  10. Jean Weissenbach
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  11. Frank Lehmann-Horn
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  12. Bertrand Fontaine
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Plassart, E., Elbaz, A., Santos, J.V. et al. Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP). Hum Genet 94, 551–556 (1994). https://doi.org/10.1007/BF00211025

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  • DOI: https://doi.org/10.1007/BF00211025

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