title: X chromosome linkage studies in familial Rett syndrome.
abstract: Four families, each with two individuals affected by Rett Syndrome (RS), were analysed using restriction fragment length 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.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, UK.
authors.forename: A R
authors.initials: AR
authors.lastname: Curtis
authors.forename: S
authors.initials: S
authors.lastname: Headland
authors.forename: S
authors.initials: S
authors.lastname: Lindsay
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: E
authors.initials: E
authors.lastname: Boye
authors.forename: S
authors.initials: S
authors.lastname: Kamakari
authors.forename: P
authors.initials: P
authors.lastname: Roustan
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: J
authors.initials: J
authors.lastname: Wahlstrom
authors.forename: G
authors.initials: G
authors.lastname: McCarthy
mesh_terms: D002874:Chromosome Mapping; D004276:DNA, Satellite / Q000032:analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015518:Rett Syndrome / Q000235:genetics*; D016615:Telomere; D014960:X Chromosome
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers