Norrie disease resulting from a gene deletion: clinical features and DNA studies

J Med Genet. 1988 Feb;25(2):73-8. doi: 10.1136/jmg.25.2.73.

Abstract

We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Autoradiography
  • Blindness / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Genetic Linkage*
  • Genetic Markers*
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Muscular Atrophy / genetics
  • Pedigree
  • Syndrome
  • X Chromosome / ultrastructure*

Substances

  • Genetic Markers