Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis

The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin. Up to now...

Full description

Saved in:
Bibliographic Details
Published in:Human mutation 2002-09, Vol.20 (3), p.237-237
Main Authors: Kiehntopf, Michael, Schickel, Jörg, Gönne, Bärbel von der, Koch, Hans Georg, Superti-Furga, Andrea, Steinmann, Beat, Deufel, Thomas, Harms, Erik
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Amino Acid Transport Systems, Neutral
Base Sequence
Cohort Studies
CTNS mutations
cystinosin
Cystinosis - genetics
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Founder Effect
Gene Deletion
German
Germany
Glycoproteins
Humans
Membrane Proteins - genetics
Membrane Transport Proteins
Molecular Sequence Data
Mutagenesis, Insertional
nephropathic cystinosis
Point Mutation
Sequence Deletion
Swiss
Switzerland
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin. Up to now more than 55 different CTNS mutations have been described in cystinosis. We have analyzed the mutation pattern in a population of 40 cystinosis patients from 35 families of German and Swiss origin. CTNS mutations in 68 out of 70 alleles were identified. The common 57‐kb deletion accounted for 65% of the alleles. In five patients we found a known GACT deletion at position 18‐21. In two patients we identified a nucleotide substitution at codon 339 and one patient showed a CG insertion at position 697‐698. In five patients we observed a G insertion at position 926‐927. Moreover, five novel mutations including two deletions involving exon 3 (61‐61+2delGGT) and exon 6 (280delG), two insertions in exon 6 (292‐293insA) and exon 7 (684insCACTT) and one nucleotide substitution in exon 11 (923G>T) have been identified. These data provide a basis for routine molecular diagnosis of cystinosis in the central European population, especially in cystinosis patients of German and Swiss origin. © 2002 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.9063