title: Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness.
abstract: A family is presented with multiple cases of mild mental retardation, schizophrenia and other functional psychoses, progressive hearing loss, and retinitis pigmentosa (RP). It closely resembles a previously reported Finnish family. We suggest that the phenotypes are not associated in this family by chance, but define a novel syndrome which may be caused by a mutant allele at a single genetic locus.
authors.affiliation: University Department of Psychiatry, Royal Edinburgh Hospital, United Kingdom.
authors.forename: C W
authors.initials: CW
authors.lastname: Sharp
authors.forename: W J
authors.initials: WJ
authors.lastname: Muir
authors.forename: D H
authors.initials: DH
authors.lastname: Blackwood
authors.forename: M
authors.initials: M
authors.lastname: Walker
authors.forename: C
authors.initials: C
authors.lastname: Gosden
authors.forename: D M
authors.initials: DM
authors.lastname: St Clair
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D013577:Syndrome