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עמוד בית
Thu, 22.02.24

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July 2007
D.Lotan, G.Yoskovitz, L.Bisceglia, L.Gerad, H.Reznik-Wolf and E.Pras

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones   and is caused by mutations in two genes: SLC3A1 on 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.

August 2001
Eran Pras, MD, Elon Pras, MD, Tengiz Bakhan, PhD, Etgar Levy-Nisenbaum, BSc, Hadas Lahat, MSc, Ehud I. Assia, MD, Hana J. Garzozi, Daniel L. Kastner, MD, PhD, Boleslaw Goldman, MD and Moshe Frydman, MD
February 2001
Bo Johanneson, BSc and Marta E. Alarcon-Riquelme, MD, PhD
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