First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine
| Autor: | Kaate R J Vanmolkot, Eelke H van den Boogerd, Rune R. Frants, Joost Haan, Anine H. Stam, Ashok Raman, Nin Bajaj, Michel D. Ferrari, Gisela M. Terwindt, Judith van Vark, Jeroen J. M. W. van den Heuvel, Boukje de Vries, Jan B. Koenderink, Arn M. J. M. van den Maagdenberg |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Proband Heterozygote Adolescent Migraine with Aura Molecular Sequence Data Membrane transport and intracellular motility [NCMLS 5] Biology Compound heterozygosity Genomic disorders and inherited multi-system disorders [IGMD 3] Loss of heterozygosity ATP1A2 Genetics medicine Humans Missense mutation Amino Acid Sequence Child Genetics (clinical) Familial hemiplegic migraine Poverty-related infectious diseases [N4i 3] medicine.disease Penetrance Migraine with aura Pedigree Pathogenesis and modulation of inflammation [N4i 1] Renal disorders [UMCN 5.4] Female Sodium-Potassium-Exchanging ATPase medicine.symptom Functional Neurogenomics [DCN 2] |
| Zdroj: | European Journal of Human Genetics, 15, 884-8 European Journal of Human Genetics, 15, 8, pp. 884-8 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5201841 |
| Popis: | Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic migraine. Both mutations show reduced penetrance in family members of the proband. Cellular survival assays revealed Na,K-ATPase dysfunction for both ATP1A2 mutants, indicating that both mutations are disease causative. This is the first case of compound heterozygosity for any of the known FHM genes. |
| Databáze: | OpenAIRE |
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