title: Two novel CTNS mutations in cystinosis patients in Thailand.
abstract: Cystinosis is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin. We performed mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, we identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported. This study expands the mutational and population spectrum of nephropathic cystinosis.
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Chulalongkorn University, Bangkok, 10330, Thailand.
authors.forename: Patra
authors.initials: P
authors.lastname: Yeetong
authors.forename: Siraprapa
authors.initials: S
authors.lastname: Tongkobpetch
authors.forename: Pornchai
authors.initials: P
authors.lastname: Kingwatanakul
authors.forename: Tawatchai
authors.initials: T
authors.lastname: Deekajorndech
authors.forename: Isa M
authors.initials: IM
authors.lastname: Bernardini
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D000293:Adolescent; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D017354:Point Mutation; D013785:Thailand
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human