Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF

Research article (journal) | Peer reviewed

Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.

Details about the publication

JournalNature Genetics (Nat Genet)
Volume37
Issue10
Page range1044-1046
StatusPublished
Release year2005
Language in which the publication is writtenEnglish
KeywordsMutation; GTP Phosphohydrolases; Animals; Amino Acid Sequence; Research Support U.S. Gov't P.H.S.; Research Support N.I.H. Extramural; Dogs; Base Sequence; Mice; Rats; Research Support Non-U.S. Gov't. Research Support U.S. Gov't Non-P.H.S.; Humans; Brachial Plexus Neuritis; Molecular Sequence Data; Chromosomes Human Pair 17; Mutation; GTP Phosphohydrolases; Animals; Amino Acid Sequence; Research Support U.S. Gov't P.H.S.; Research Support N.I.H. Extramural; Dogs; Base Sequence; Mice; Rats; Research Support Non-U.S. Gov't. Research Support U.S. Gov't Non-P.H.S.; Humans; Brachial Plexus Neuritis; Molecular Sequence Data; Chromosomes Human Pair 17

Authors from the University of Münster

Halfter, Hartmut
Neurology Clinic [closed]
Schirmacher, Anja
Neurology Clinic [closed]
Young, Peter
Neurology Clinic [closed]