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Molecular characterization of ctns deletions in nephropathic cystinosis: Development of a pcr-based detection assay

Academic Article
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Overview

authors

  • Forestier, L.
  • Jean, G.
  • Attard, M.
  • Cherqui, Stephanie
  • Lewis, C.
  • van't Hoff, W.
  • Broyer, M.
  • Town, M.
  • Antignac, C.

publication date

  • August 1999

journal

  • American Journal of Human Genetics  Journal

abstract

  • Nephropathic cystinosis is an autosomal recessive disorder that is characterized by accumulation of intralysosomal cystine and is caused by a defect in the transport of cystine across the lysosomal membrane. Using a positional cloning strategy, we recently cloned the causative gene, CTNS, and identified pathogenic mutations, including deletions, that span the cystinosis locus. Two types of deletions were detected-one of 9.5-16 kb, which was seen in a single family, and one of approximately 65 kb, which is the most frequent mutation found in the homozygous state in nearly one-third of cystinotic individuals. We present here characterization of the deletion breakpoints and demonstrate that, although both deletions occur in regions of repetitive sequences, they are the result of nonhomologous recombination. This type of mechanism suggests that the approximately 65-kb deletion is not a recurrent mutation, and our results confirm that it is identical in all patients. Haplotype analysis shows that this large deletion is due to a founder effect that occurred in a white individual and that probably arose in the middle of the first millenium. We also describe a rapid PCR-based assay that will accurately detect both homozygous and heterozygous deletions, and we use it to show that the approximately 65-kb deletion is present in either the homozygous or the heterozygous state in 76% of cystinotic patients of European origin.

subject areas

  • Alleles
  • Amino Acid Transport Systems, Neutral
  • Base Sequence
  • Chromosome Breakage
  • Cystinosis
  • DNA Mutational Analysis
  • Europe
  • Female
  • Founder Effect
  • Gene Frequency
  • Genetic Markers
  • Genotype
  • Glycoproteins
  • Haplotypes
  • Humans
  • Male
  • Membrane Proteins
  • Membrane Transport Proteins
  • Molecular Sequence Data
  • Physical Chromosome Mapping
  • Polymerase Chain Reaction
  • Recombination, Genetic
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion
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Identity

PubMed Central ID

  • PMC1377934

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/302509

PubMed ID

  • 10417278
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Additional Document Info

start page

  • 353

end page

  • 359

volume

  • 65

issue

  • 2

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