A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2

被引：0
作者：
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
机构：
[1] University of Helsinki,Biomedicum Helsinki, Research Program in Molecular Medicine
[2] University of Helsinki,Department of Clinical Chemistry
[3] University of Helsinki,Department of Neurology
[4] Leiden University Medical Centre,Department of Human Genetics
[5] Leiden University Medical Centre,Department of Neurology
[6] University of California,Department of Physiology and Biophysics and Division of Human Genetics, Department of Pediatrics
[7] University of Helsinki,Department of Pediatric Neurology
[8] University of Helsinki,The Finnish Genome Center
[9] David Geffen School of Medicine at University of California,Departments of Pathology and Human Genetics
[10] Institute of Genetics,Folhälsan Research Center
[11] Biomedicum Helsinki,undefined
[12] Research Program in Molecular Medicine,undefined
来源：
Neurogenetics | 2004年 / 5卷
关键词：
Familial hemiplegic migraine; Linkage; DNA sequence analysis; Na; -K; -exchanging ATPase; Missense mutation;
D O I：
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学科分类号：
摘要：
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.
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页码：141 / 146
页数：5
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