Please use this identifier to cite or link to this item: http://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
RMID: 0020020633
DOI: 10.1038/ng862
Appears in Collections:Molecular and Biomedical Science publications

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