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

Laurent Villard, Marie Claude Bonino, Fatima Abidi, Angela Ragusa, Jérôme Belougne, Anne Marie Lossi, Laurie Seaver, Jean Paul Bonnefont, Corrado Romano, Marco Fichera, Didier Lacombe, André Hanauer, Nicole Philip, Charles Schwartz, Michel Fontés

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)183-186
Number of pages4
JournalJournal of Medical Genetics
Issue number3
Publication statusPublished - 1999


  • ATR-X
  • Mental retardation
  • Mutation
  • Zinc finger

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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