[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].
The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report a typical clinical case. The clinical evidence leads us to continue the analysis of the gene despite a negative first screening. Indeed a new mutation was found, just behind the helicase domain, bringing up the interest of an effective collaboration between physicians and biologists.
Giuliano
F
F
Service de génétique médicale, hôpital l'Archet-2, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice cedex 03, France. giuliano@unice.fr
Badens
C
C
Richelme
C
C
Levy
N
N
Lambert
J C
JC
D004265:DNA Helicases / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics; D013577:Syndrome; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics*
D009687:Nuclear Proteins; D011944:Receptors, Androgen; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein