title: Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
abstract: Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: J A
authors.initials: JA
authors.lastname: van den Hurk
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: T J
authors.initials: TJ
authors.lastname: van de Pol
authors.forename: L
authors.initials: L
authors.lastname: Bogerd
authors.forename: A J
authors.initials: AJ
authors.lastname: Pinckers
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
authors.forename: I H
authors.initials: IH
authors.lastname: Pawlowitzki
authors.forename: K
authors.initials: K
authors.lastname: Rüther
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases; D002352:Carrier Proteins / Q000235:genetics*; D015794:Choroideremia / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics; D020691:rab GTP-Binding Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D002352:Carrier Proteins; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins