title: Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).
abstract: The gene for the most frequent from of X-linked retinitis pigmentosa (XLRP), RP3, has been assigned by genetic and physical mapping to a segment of less than 1000 kbp, which is flanked by the marker DXS1110 and the ornithine transcarbamylase (OTC) gene. In search of microdeletions, we have screened the DNA of 30 unrelated patients with XLRP by employing a representative set of YAC-derived DNA fragments that were generated by restriction enzyme digestion and PCR amplification. In one of these patients, a 6.4 kbp microdeletion was detected which was not present in the DNA of 444 male controls. A cosmid contig spanning the deletion was constructed and used to isolate cDNAs from retina-specific libraries. Exons corresponding to these expressed sequences as well as other putative exons were identified by sequencing more than 30 kbp of the critical region. So far, no point mutations in these putative exon sequences have been identified.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: Roepman
authors.forename: D
authors.initials: D
authors.lastname: Bauer
authors.forename: T
authors.initials: T
authors.lastname: Rosenberg
authors.forename: G
authors.initials: G
authors.lastname: van Duijnhoven
authors.forename: E
authors.initials: E
authors.lastname: van de Vosse
authors.forename: M
authors.initials: M
authors.lastname: Platzer
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
authors.forename: W
authors.initials: W
authors.lastname: Berger
mesh_terms: D002460:Cell Line; D018244:Chromosomes, Artificial, Yeast; D003360:Cosmids; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome