Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.
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.
Joy
J E
JE
National Institute of Mental Health Neurosciences Center, St Elizabeth's Hospital, Washington, DC.
Poglod
R
R
Murphy
D L
DL
Sims
K B
KB
de la Chapelle
A
A
Sankila
E M
EM
Norio
R
R
Merril
C R
CR
D001766:Blindness / Q000134:cerebrospinal fluid* / Q000151:congenital / Q000235:genetics; D002556:Cerebrospinal Fluid Proteins / Q000235:genetics / Q000302:isolation & purification*; D002872:Chromosome Deletion; D015180:Electrophoresis, Gel, Two-Dimensional; D006801:Humans; D008607:Intellectual Disability / Q000134:cerebrospinal fluid / Q000235:genetics; D008297:Male; D008995:Monoamine Oxidase / Q000172:deficiency; D014960:X Chromosome
D002556:Cerebrospinal Fluid Proteins; D008995:Monoamine Oxidase