Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
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.
Kuhlenbäumer
Gregor
G
Department of Neurology, University of Münster, Domagkstr. 3, D-48149 Münster, Germany. gkuhlen@uni-muenster.de
Hannibal
Mark C
MC
Nelis
Eva
E
Schirmacher
Anja
A
Verpoorten
Nathalie
N
Meuleman
Jan
J
Watts
Giles D J
GD
De Vriendt
Els
E
Young
Peter
P
Stögbauer
Florian
F
Halfter
Hartmut
H
Irobi
Joy
J
Goossens
Dirk
D
Del-Favero
Jurgen
J
Betz
Benjamin G
BG
Hor
Hyun
H
Kurlemann
Gert
G
Bird
Thomas D
TD
Airaksinen
Eila
E
Mononen
Tarja
T
Serradell
Adolfo Pou
AP
Prats
José M
JM
Van Broeckhoven
Christine
C
De Jonghe
Peter
P
Timmerman
Vincent
V
Ringelstein
E Bernd
EB
Chance
Phillip F
PF
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D020968:Brachial Plexus Neuritis / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004285:Dogs; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D051381:Rats; D058112:Septins
D020558:GTP Phosphohydrolases; C474315:SEPTIN9 protein, human; D058112:Septins