PMID- 10571941
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20071115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 6
DP  - 1999
TI  - CTNS mutations in patients with cystinosis.
PG  - 454-8
AB  - Cystinosis is an autosomal recessive lysosomal storage disease caused by
      mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino
      acids and seven transmembrane domains and is thought to transport cystine out of 
      lysosomes. The most common form of cystinosis, the nephropathic or infantile
      type, is characterized by renal failure at 10 years of age and other systemic
      complications. To date, 32 different CTNS mutations have been described in
      nephropathic cystinosis patients. Intermediate cystinosis, with later onset of
      renal disease, has been associated with three different CTNS mutations. Benign or
      nonnephropathic cystinosis, with symptoms related only to corneal crystals and
      photophobia, has been associated with two other CTNS mutations. In general, only 
      certain splicing or missense mutations are associated with milder cystinosis
      phenotypes. Hum Mutat 14:454-458, 1999. Published 1999 Wiley-Liss, Inc.
FAU - Anikster, Y
AU  - Anikster Y
AD  - Section on Human Biochemical Genetics, Heritable Disorders Branch, National
      Institute of Child Health and Human Development, Bethesda, Maryland 20892-1830,
      USA.
FAU - Shotelersuk, V
AU  - Shotelersuk V
FAU - Gahl, W A
AU  - Gahl WA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Amino Acid Transport Systems, Neutral)
RN  - 0 (CTNS protein, human)
RN  - 0 (Glycoproteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
SB  - IM
MH  - Amino Acid Transport Systems, Neutral
MH  - Cystinosis/*genetics
MH  - Fanconi Syndrome/genetics
MH  - Genes, Recessive
MH  - Genotype
MH  - *Glycoproteins
MH  - Humans
MH  - Membrane Proteins/chemistry/*genetics
MH  - Membrane Transport Proteins
MH  - *Mutation
MH  - Phenotype
MH  - Polymorphism, Genetic
MH  - Sequence Deletion
RF  - 25
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H [pii]
AID - 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(6):454-8. doi:
      10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H.