PMID- 10625078
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20190915
IS  - 0031-3998 (Print)
IS  - 0031-3998 (Linking)
VI  - 47
IP  - 1
DP  - 2000 Jan
TI  - Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular
      correlations.
PG  - 17-23
AB  - Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of 
      cystinosis, is an autosomal recessive lysosomal storage disorder characterized by
      photophobia due to corneal cystine crystals but absence of renal disease. We
      determined the molecular basis for ocular cystinosis in four individuals. All had
      mutations in the cystinosis gene CTNS, indicating that ocular cystinosis is
      allelic with classic nephropathic cystinosis. The ocular cystinosis patients each
      had one severe mutation and one mild mutation, the latter consisting of either a 
      928 G-->A (G197R) mutation or an IVS10-3 C-->G splicing mutation resulting in the
      insertion of 182 bp of IVS10 into the CTNS mRNA. The mild mutations appear to
      allow for residual CTNS mRNA production, significant amounts of lysosomal cystine
      transport, and lower levels of cellular cystine compared with those in
      nephropathic cystinosis. The lack of kidney involvement in ocular cystinosis may 
      be explained by two different mechanisms. On the one hand (e.g. the G197R
      mutation), significant residual cystinosin activity may be present in every
      tissue. On the other hand (e.g. the IVS 10-3 C-->G mutation), substantial
      cystinosin activity may exist in the kidney because of that tissue's specific
      expression of factors that promote splicing of a normal CTNS transcript. Each of 
      these mechanisms could result in minimally reduced lysosomal cystine transport in
      the kidneys.
FAU - Anikster, Y
AU  - Anikster Y
AD  - Section on Human Biochemical Genetics, Heritable Disorders Branch, National
      Institute of Child Health and Human Development, National Institutes of Health,
      Bethesda, Maryland 20892, USA.
FAU - Lucero, C
AU  - Lucero C
FAU - Guo, J
AU  - Guo J
FAU - Huizing, M
AU  - Huizing M
FAU - Shotelersuk, V
AU  - Shotelersuk V
FAU - Bernardini, I
AU  - Bernardini I
FAU - McDowell, G
AU  - McDowell G
FAU - Iwata, F
AU  - Iwata F
FAU - Kaiser-Kupfer, M I
AU  - Kaiser-Kupfer MI
FAU - Jaffe, R
AU  - Jaffe R
FAU - Thoene, J
AU  - Thoene J
FAU - Schneider, J A
AU  - Schneider JA
FAU - Gahl, W A
AU  - Gahl WA
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Pediatr Res
JT  - Pediatric research
JID - 0100714
RN  - 0 (Amino Acid Transport Systems, Neutral)
RN  - 0 (CTNS protein, human)
RN  - 0 (DNA Primers)
RN  - 0 (Glycoproteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Amino Acid Transport Systems, Neutral
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Cystinosis/genetics/metabolism/*pathology
MH  - DNA Primers
MH  - Eye Diseases/genetics/metabolism/*pathology
MH  - *Glycoproteins
MH  - Membrane Proteins/genetics
MH  - Membrane Transport Proteins
MH  - Mutation
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - RNA, Messenger/genetics
EDAT- 2000/01/07 00:00
MHDA- 2000/01/07 00:01
CRDT- 2000/01/07 00:00
PHST- 2000/01/07 00:00 [pubmed]
PHST- 2000/01/07 00:01 [medline]
PHST- 2000/01/07 00:00 [entrez]
AID - 10.1203/00006450-200001000-00007 [doi]
PST - ppublish
SO  - Pediatr Res. 2000 Jan;47(1):17-23. doi: 10.1203/00006450-200001000-00007.