title: Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
abstract: The RS1 gene is the causative gene in X-linked juvenile retinoschisis (RS). We have screened this gene for mutations in 13 patients with RS and in 7 probands with senile retinoschisis, a sporadic, later-onset form of retinoschisis. Mutations were detected in all RS patients. Of the 11 different mutations identified, six have been reported previously and live are novel. We did not find mutations in any of the senile retinoschisis patients and conclude that senile retinoschisis is not the result of germline mutations in the RS1 gene.
authors.affiliation: Institut für Humangenetik, Biozentrum, Universität Würzburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Gehrig
authors.forename: K
authors.initials: K
authors.lastname: White
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: M
authors.initials: M
authors.lastname: Andrassi
authors.forename: S
authors.initials: S
authors.lastname: Clemens
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
mesh_terms: D000328:Adult; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human