X chromosome linkage studies in familial Rett syndrome |
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| Authors: | Andrew R J Curtis Sophie Headland Susan Lindsay Nicholas S T Thomas Eileen Boye Smaragda Kamakari Paul Roustan Maria Anvret Jan Wahlstrom Gillian McCarthy Angus J Clarke Shomi Bhattacharya |
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| Institution: | (1) Department of Human Genetics, University of Newcastle upon Tyne, 19 Claremont Place, Newcastle upon Tyne, UK;(2) University of Wales College of Medicine, Institute of Medical Genetics, Heath Park, Cardiff, UK;(3) Paediatric Research Unit, Guys Hospital, London, UK;(4) Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden;(5) Department of Clinical Genetics, East Hospital, Gothenburg, Sweden;(6) Chailey Heritage Hospital, North Chailey, East Sussex, UK;(7) Present address: Department of Molecular Genetics, Institut of Ophthalmology, Bath Street, EC1 V9EL London, UK |
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| Abstract: | Four families, each with two individuals affectecd by Rett Syndrome (RS), were analysed using restriction fragment lenght polymorphisms and microsatellite markers from the X chromosome. In two of the families, X-linked dominant inheritance of the RS defect from a germinally mosaic mother could be assumed. Therefore, maternal X chromosome markers showing discordant inheritance were used to exclude regions of the X chromosome as locations of the RS gene. Much of the short arm could be excluded, including regions containing three candidate genes, OTC, synapsin 1 and synaptophysin. Although most of the long arm was inherited in common it was possible to exclude a centromeric region. Inheritance of X chromosome markers is also presented for two families with affected aunt-niece pairs, one of which has not been previously studied at the DNA level. |
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