title: Partial duplications of the ATRX gene cause the ATR-X syndrome.
abstract: ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.
authors.affiliation: Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
authors.forename: Bernard
authors.initials: B
authors.lastname: Thienpont
authors.forename: Thomy
authors.initials: T
authors.lastname: de Ravel
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.forename: Dominique
authors.initials: D
authors.lastname: Van Schoubroeck
authors.forename: Philippe
authors.initials: P
authors.lastname: Moerman
authors.forename: Joris Robert
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Guy
authors.initials: G
authors.lastname: Froyen
authors.forename: Caroline
authors.initials: C
authors.lastname: Lacoste
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D013577:Syndrome; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics* / Q000378:metabolism
chemical_list: D009687:Nuclear Proteins; D012333:RNA, Messenger; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein