title: CTNS mutations in patients with cystinosis.
abstract: 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.
authors.affiliation: Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892-1830, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Anikster
authors.forename: V
authors.initials: V
authors.lastname: Shotelersuk
authors.forename: W A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D026921:Amino Acid Transport Systems, Neutral; D003554:Cystinosis / Q000235:genetics*; D005198:Fanconi Syndrome / Q000235:genetics; D005808:Genes, Recessive; D005838:Genotype; D006023:Glycoproteins; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D026901:Membrane Transport Proteins; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D006023:Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins