PT  - JOURNAL ARTICLE
AU  - Laurent Villard
AU  - Marie-Claude Bonino
AU  - Fatima Abidi
AU  - Angela Ragusa
AU  - Jérôme Belougne
AU  - Anne-Marie Lossi
AU  - Laurie Seaver
AU  - Jean-Paul Bonnefont
AU  - Corrado Romano
AU  - Marco Fichera
AU  - Didier Lacombe
AU  - André Hanauer
AU  - Nicole Philip
AU  - Charles Schwartz
AU  - Michel Fontés
TI  - Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
AID  - 10.1136/jmg.36.3.183
DP  - 1999 Mar 01
TA  - Journal of Medical Genetics
PG  - 183--186
VI  - 36
IP  - 3
4099  - http://jmg.bmj.com/content/36/3/183.short
4100  - http://jmg.bmj.com/content/36/3/183.full
SO  - J Med Genet1999 Mar 01; 36
AB  - 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.