Please use this identifier to cite or link to this item:
Scopus Web of ScienceĀ® Altmetric
Full metadata record
DC FieldValueLanguage
dc.contributor.authorTurner, G.en
dc.contributor.authorPartington, M.en
dc.contributor.authorKerr, B.en
dc.contributor.authorMangelsdorf, M.en
dc.contributor.authorGecz, J.en
dc.identifier.citationAmerican Journal of Medical Genetics. Part A, 2002; 112(4):405-411en
dc.description.abstractTwo families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C>T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene.en
dc.description.statementofresponsibilityTurner, Gillian ; Partington, Michael ; Kerr, Bronwyn ; Mangelsdorf, Marie ; Gecz, Jozefen
dc.subjectChromosomes, Human, X; Humans; Seizures; Dystonia; Tremor; Homeodomain Proteins; Transcription Factors; Pedigree; Autistic Disorder; Sex Factors; Mutation; Adult; Middle Aged; Child; Infant; Family Health; Female; Male; Genetic Linkage; Intellectual Disabilityen
dc.titleVariable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationen
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.