Mutational spectrum of the CTNS gene in Italy.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Publication: <2003->: London : Nature Publishing Group
Original Publication: Basel ; New York : Karger, [1992-

Glycoproteins*; Cystinosis/*genetics ; Membrane Proteins/*genetics; Adolescent ; Adult ; Amino Acid Transport Systems, Neutral ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Italy ; Male ; Membrane Transport Proteins ; Polymorphism, Single-Stranded Conformational

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.

E.0899 Italy TI_ Telethon

0 (Amino Acid Transport Systems, Neutral)
0 (CTNS protein, human)
0 (Glycoproteins)
0 (Membrane Proteins)
0 (Membrane Transport Proteins)

Date Created: 20030626 Date Completed: 20040322 Latest Revision: 20230120

20240627

10.1038/sj.ejhg.5200993

12825071