Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. Issue 3 (1st March 1999)

• Record Type: Journal Article
• Authors: Villard, Laurent; Bonino, Marie-Claude; Abidi, Fatima; Ragusa, Angela; Belougne, Jérôme; Lossi, Anne-Marie; Seaver, Laurie; Bonnefont, Jean-Paul; Romano, Corrado; Fichera, Marco; Lacombe, Didier; Hanauer, André; Philip, Nicole; Schwartz, Charles; Fontés, Michel
• Is Part Of: Journal of medical genetics. Volume 36:Issue 3(1999)
• Page Start: 183
• Page End: 186
• Publication Date: 1999-03-01
• Subjects: mental retardation -- ATR-X -- mutation -- zinc finger; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.36.3.183
• Languages: English
• ISSNs: 1468-6244

Abstract

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.