Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

✍ Scribed by Emmanuelle Plassart; Alexis Elbaz; Jose Vale Santos; Jocelyne Reboul; Pascale Lapie; Dominique Chauveau; Karin Jurkat-Rott; Joao Guimaraes; Jean-Marie Saudubray; Jean Weissenbach; Frank Lehmann-Horn; Bertrand Fontaine

• Book ID: 104666447
• Publisher: Springer
• Year: 1994
• Tongue: English
• Weight: 538 KB
• Volume: 94
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00211025

✦ Synopsis

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.