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https://hdl.handle.net/2440/28173
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Type: | Journal article |
Title: | Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy |
Author: | Stromme, P. Mangelsdorf, M. Shaw, M. Lower, K. Lewis, S. Bruyere, H. Lutcherath, V. Gedeon, A. Wallace, R. Scheffer, I. Turner, G. Partington, M. Frints, S. Fryns, J. Sutherland, G. Mulley, J. Gecz, J. |
Citation: | Nature Genetics, 2002; 30(4):441-445 |
Publisher: | Nature America Inc |
Issue Date: | 2002 |
ISSN: | 1061-4036 1546-1718 |
Statement of Responsibility: | Petter 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 Gécz |
Abstract: | Mental 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. |
Keywords: | X 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 Disability |
DOI: | 10.1038/ng862 |
Published version: | http://dx.doi.org/10.1038/ng862 |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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