title: Mutational spectrum of the CTNS gene in Italy.
abstract: Classic nephropathic or infantile cystinosis (NC) is an autosomal recessive disorder; the gene coding for the integral membrane protein cystinosin, which is responsible for membrane transport of cystine (CTNS), was cloned. Mutation analysis of the CTNS gene of Caucasian patients revealed a common 57-kb deletion, and several other mutations spread throughout the entire gene. In the present study, we report the CTNS mutations identified in 42 of 46 Italian families with NC. The percentage of mutations characterized in this study is 86%. The mutational spectrum of the Italian population is different from that of populations of North European origin: the 57-kb deletion is present in a lower percentage, while the splicing mutations represent 30% of mutation detected in our sample. In all, six novel mutations have been identified, and the origin of one recurrent mutation has been traced.
authors.affiliation: Clinical Genetics, Department of Pediatrics, University of Padua, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Mason
authors.forename: Guglielmina
authors.initials: G
authors.lastname: Pepe
authors.forename: Roberto
authors.initials: R
authors.lastname: Dall'Amico
authors.forename: Sara
authors.initials: S
authors.lastname: Tartaglia
authors.forename: Stefania
authors.initials: S
authors.lastname: Casciani
authors.forename: Marcella
authors.initials: M
authors.lastname: Greco
authors.forename: Paola
authors.initials: P
authors.lastname: Bencivenga
authors.forename: Luisa
authors.initials: L
authors.lastname: Murer
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Rizzoni
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
mesh_terms: D000293:Adolescent; D000328:Adult; D026921:Amino Acid Transport Systems, Neutral; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006023:Glycoproteins; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D006023:Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins