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dc.contributor.authorStromme, P.en
dc.contributor.authorMangelsdorf, M.en
dc.contributor.authorShaw, M.en
dc.contributor.authorLower, K.en
dc.contributor.authorLewis, S.en
dc.contributor.authorBruyere, H.en
dc.contributor.authorLutcherath, V.en
dc.contributor.authorGedeon, A.en
dc.contributor.authorWallace, R.en
dc.contributor.authorScheffer, I.en
dc.contributor.authorTurner, G.en
dc.contributor.authorPartington, M.en
dc.contributor.authorFrints, S.en
dc.contributor.authorFryns, J.en
dc.contributor.authorSutherland, G.en
dc.contributor.authorMulley, J.en
dc.contributor.authorGecz, J.en
dc.identifier.citationNature Genetics, 2002; 30(4):441-445en
dc.description.abstractMental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily genetic, major advances have been made in unraveling their molecular basis. The human X chromosome alone is estimated to harbor more than 100 genes that, when mutated, cause mental retardation. At least eight autosomal genes involved in idiopathic epilepsy have been identified, and many more have been implicated in conditions where epilepsy is a feature. We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia. Two recurrent mutations, present in seven families, result in expansion of polyalanine tracts of the ARX protein. These probably cause protein aggregation, similar to other polyalanine and polyglutamine disorders. In addition, we have identified a missense mutation within the ARX homeodomain and a truncation mutation. Thus, it would seem that mutation of ARX is a major contributor to X-linked mental retardation and epilepsy.en
dc.description.statementofresponsibilityPetter Strømme ; Marie E. Mangelsdorf ; Marie A. Shaw ; Karen M. Lower ; Suzanne M.e. Lewis ; Helene Bruyere ; Viggo Lütcherath ; Ági K. Gedeon ; Robyn H. Wallace ; Ingrid E. Scheffer ; Gillian Turner ; Michael Partington ; Suzanna G.m. Frints ; Jean-pierre Fryns ; Grant R. Sutherland ; John C. Mulley ; Jozef Géczen
dc.publisherNature America Incen
dc.subjectX Chromosome; Animals; Humans; Mice; Epilepsy; Drosophila Proteins; Poly A; Nucleic Acid Hybridization; Pedigree; Transcription, Genetic; Amino Acid Sequence; Sequence Homology, Amino Acid; Tissue Distribution; Haplotypes; Mutation; Mutation, Missense; Models, Genetic; Molecular Sequence Data; Family Health; Female; Male; Intellectual Disabilityen
dc.titleMutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyen
dc.typeJournal articleen
pubs.library.collectionMolecular and Biomedical Science publicationsen
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Molecular and Biomedical Science publications

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