Partial duplications of the ATRX gene cause the ATR-X syndrome.
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.
Thienpont
Bernard
B
Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
de Ravel
Thomy
T
Van Esch
Hilde
H
Van Schoubroeck
Dominique
D
Moerman
Philippe
P
Vermeesch
Joris Robert
JR
Fryns
Jean-Pierre
JP
Froyen
Guy
G
Lacoste
Caroline
C
Badens
Catherine
C
Devriendt
Koen
K
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
D009687:Nuclear Proteins; D012333:RNA, Messenger; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein