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. 1999 Mar;36(3):183-6.

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

L Villard  1 , M C Bonino, F Abidi, A Ragusa, J Belougne, A M Lossi, L Seaver, J P Bonnefont, C Romano, M Fichera, D Lacombe, A Hanauer, N Philip, C Schwartz, M Fontés
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Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

L Villard et al. J Med Genet. 1999 Mar.

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.

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