Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report

Appl Theor Electrophor. 1991;2(1):3-5.

Abstract

Norrie disease is an X-linked recessive disorder characterized by congenital blindness and, in many cases, mental retardation. Some Norrie disease cases have been shown to be associated with a submicroscopic deletion in chromosomal region Xp11.3. Cerebrospinal fluid (CSF) was collected from four male patients with an X-chromosomal deletion associated with Norrie disease. CSF proteins were resolved using two-dimensional gel electrophoresis and then analyzed by computer using the Elsie V program. Our analysis revealed a protein that appears to be altered in patients with Norrie disease deletion.

MeSH terms

  • Blindness / cerebrospinal fluid*
  • Blindness / congenital
  • Blindness / genetics
  • Cerebrospinal Fluid Proteins / genetics
  • Cerebrospinal Fluid Proteins / isolation & purification*
  • Chromosome Deletion*
  • Electrophoresis, Gel, Two-Dimensional
  • Humans
  • Intellectual Disability / cerebrospinal fluid
  • Intellectual Disability / genetics
  • Male
  • Monoamine Oxidase / deficiency
  • X Chromosome*

Substances

  • Cerebrospinal Fluid Proteins
  • Monoamine Oxidase