Mutational spectrum of the CTNS gene in Italy.
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.
Mason
Silvia
S
Clinical Genetics, Department of Pediatrics, University of Padua, Italy.
Pepe
Guglielmina
G
Dall'Amico
Roberto
R
Tartaglia
Sara
S
Casciani
Stefania
S
Greco
Marcella
M
Bencivenga
Paola
P
Murer
Luisa
L
Rizzoni
Gianfranco
G
Tenconi
Romano
R
Clementi
Maurizio
M
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
D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D006023:Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins