title: Molecular-clinical spectrum of the ATR-X syndrome.
abstract: Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. An attempt is made in this article to review the clinical spectrum associated with ATRX mutations and to analyse the evidence for any genotype/phenotype correlation.
authors.affiliation: Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK. rgibbons@pinnacle.jr2.ox.ac.uk
authors.forename: R J
authors.initials: RJ
authors.lastname: Gibbons
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology*; D004265:DNA Helicases; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005145:Face / Q000002:abnormalities; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology*; D009139:Musculoskeletal Abnormalities / Q000235:genetics / Q000503:physiopathology; D009687:Nuclear Proteins; D010641:Phenotype; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014564:Urogenital Abnormalities / Q000235:genetics / Q000503:physiopathology; D014960:X Chromosome / Q000235:genetics*; D000075924:X-linked Nuclear Protein
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein