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Article Dans Une Revue Journal of Medical Genetics Année : 1999

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

Résumé

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.

Dates et versions

hal-04022383 , version 1 (09-03-2023)

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Citer

Laurent Villard, Marie-Claude Bonino, Fatima Abidi, Angela Ragusa, Jérôme Belougne, et al.. Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. Journal of Medical Genetics, 1999, 36 (3), pp.183-186. ⟨10.1136/jmg.36.3.183⟩. ⟨hal-04022383⟩
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