Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness

Am J Med Genet. 1994 Dec 15;54(4):354-60. doi: 10.1002/ajmg.1320540414.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Deafness / genetics*
  • Deafness / physiopathology
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Schizophrenia / genetics*
  • Syndrome