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 language | English |
|---|---|
| Pages (from-to) | 513-516 |
| Number of pages | 4 |
| Journal | Israel Medical Association Journal |
| Volume | 9 |
| Issue number | 7 |
| Publication status | Published - Jul 2007 |
Keywords
- Cystinuria
- Linkage
- Mutations
- SLC3A1
- SLC7A9
ASJC Scopus subject areas
- Bioengineering
- Medicine(all)