Erschienen in:
01.06.2004 | Short Communication
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2
verfasst von:
M. A. Kaunisto, H. Harno, K. R. J. Vanmolkot, J. J. Gargus, G. Sun, E. Hämäläinen, E. Liukkonen, M. Kallela, A. M. J. M. van den Maagdenberg, R. R. Frants, M. Färkkilä, A. Palotie, M. Wessman
Erschienen in:
Neurogenetics
|
Ausgabe 2/2004
Einloggen, um Zugang zu erhalten
Abstract
Familial hemiplegic migraine (FHM), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations in the Na+,K+-ATPase α2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. This mutation results in a threonine-to-alanine substitution at codon 345. This residue is located in a highly conserved N-terminal region of the M4–5 loop of the Na+,K+-ATPase. Furthermore, the T345A mutation co-segregated with the disorder in our family and was not present in 132 healthy Finnish control individuals. For these reasons it is most likely the FHM-causing mutation in this family.