Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations

✍ Scribed by N. Archidiacono; M. Lerone; M. Rocchi; M. Anvret; T. Ozcelik; U. Francke; G. Romeo

• Book ID: 104661154
• Publisher: Springer
• Year: 1991
• Tongue: English
• Weight: 452 KB
• Volume: 86
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00201549

✦ Synopsis

The hypothesis of germinal mosaicism in the unaffected mother of two half-sisters affected with Rett syndrome is postulated to explain the unusual recurrence of this genetic disorder affecting only females (1/10000); it might be caused by new X-linked mutations with lethality in male fetuses. The analysis of 34 X-linked restriction fragment length polymorphisms (RFLPs) in these two affected females and in their unaffected mother and half-brother, together with the reconstruction of phase for 15 informative RFLPs in somatic cell hybrids retaining a single X chromosome from each female, has made it possible to exclude some regions of the X chromosome as possible sites of the mutation(s) causing Rett syndrome.