title: Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
abstract: We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene reported to date fall into a short 300 bp region of the transcript, we decided to focus in this region and to extend the mutation analysis to cases with a negative family history. This study includes 21 mentally retarded male patients selected because they had severe mental retardation and a typical facial appearance. The presence of haemoglobin H or urogenital abnormalities was not considered critical for inclusion in this study. We have identified six mutations which represents a mutation detection rate of 28%. This figure is high enough for us to propose this strategy as a valid first level of screening in a selected subset of males with mental retardation. This approach is simple, does not require RNA preparation, does not involve time consuming mutation detection methods, and can thus be applied to a large number of patients at a low cost in any given laboratory.
authors: INSERM U491, Faculté de Médecine La Timone, Université de la Méditerranée, Marseille, France.
authors: L
authors: L
authors: Villard
authors: M C
authors: MC
authors: Bonino
authors: F
authors: F
authors: Abidi
authors: A
authors: A
authors: Ragusa
authors: J
authors: J
authors: Belougne
authors: A M
authors: AM
authors: Lossi
authors: L
authors: L
authors: Seaver
authors: J P
authors: JP
authors: Bonnefont
authors: C
authors: C
authors: Romano
authors: M
authors: M
authors: Fichera
authors: D
authors: D
authors: Lacombe
authors: A
authors: A
authors: Hanauer
authors: N
authors: N
authors: Philip
authors: C
authors: C
authors: Schwartz
authors: M
authors: M
authors: Fontés
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics*; D005069:Evaluation Studies as Topic; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome; D000075924:X-linked Nuclear Protein; D016335:Zinc Fingers; D017085:alpha-Thalassemia / Q000201:enzymology / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein