A combined approach to the molecular analysis of cystinuria: From urinalysis to sequencing via genotyping

Danny Lotan, Guy Yoskovitz, Luigi Bisceglia, Liora Gerad, Haike Reznik-Wolf, Elon Pras

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones and is caused by mutations in two genes: SLC3A1 chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene. Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family. Methods: Family members were evaluated for urinary cystine and amino acid levels. DNA was initially analyzed with polymorphic markers close to the two genes and SLC7A9 was fully sequenced. Results: Full segregation was found with the marker close to SLC7A9. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs. Conclusions: A combination of urinary cystine levels in obligate carriers, segregation analysis with polymorphic markers, and sequencing can save time and resources in the search for cystinuria mutations.

Original languageEnglish
Pages (from-to)513-516
Number of pages4
JournalIsrael Medical Association Journal
Volume9
Issue number7
Publication statusPublished - Jul 2007

Keywords

  • Cystinuria
  • Linkage
  • Mutations
  • SLC3A1
  • SLC7A9

ASJC Scopus subject areas

  • Bioengineering
  • Medicine(all)

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