High Frequency of Cystinuria among Jews of Libyan Origin

Weinberger, A; Sperling, Oded; Rabinovitz, Mordechai; Brosh, Shai; Adam, A.; Vries, Annemieke de

doi:10.1159/000152696

Cited by 48 publications

(22 citation statements)

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“…It has been reported that Libyan Jewish have the highest rate of cystinuria and they mostly suffer non-type I disease. 8,9 This may be the combined result of genetic defects, which are transferred through generations and environmental, dietary, and socioeconomic factors. In our cohort, Jewish origin was not involved in the cystinuria defect and cystine stone formation.…”

Section: Discussionmentioning

confidence: 99%

Cystine Stones: A Single Tertiary Center Experience

SfoungaristosStavros

HakimRony

KatzRan

et al. 2015

Journal of Endourology

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Section: Discussionmentioning

confidence: 99%

Cystine Stones: A Single Tertiary Center Experience

SfoungaristosStavros

HakimRony

KatzRan

et al. 2015

Journal of Endourology

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“…The formation of cystine stones often occurs in the second or third decade in cystinurics but may begin at an earlier age in certain individuals. The incidence of cystinuria varies worldwide from 1/2,500 among Israeli Jews of Libyan origin [Weinberger et al, 1974] 600918) are inherited in an incomplete recessive manner. Patients with homozygous cystinuria have elevated urinary excretion of cystine and dibasic amino acids and in contrast to type I and type II homozygotes, type III homozygotes show increased plasma cystine concentrations after oral cystine load.…”

Section: Introductionmentioning

confidence: 99%

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients

et al. 2001

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Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated with mutations in the amino acid transporter gene SLC3A1. The mutations detected in SLC3A1 tend to be population specific and have not been previously investigated in Sweden. We have screened the entire coding sequence and the intron/exon boundaries of the SLC3A1 gene in 53 cystinuria patients by means of single strand conformation polymorphism (SSCP) and DNA sequencing. We identified 12 novel mutations (a 2 bp deletion, one splice site mutation, and 10 missense mutations) and detected another three mutations that were previously reported. Five polymorphisms were also identified, four of which were formerly described. The most frequent mutation in this study was the previously reported M467T and it was also detected in the normal population with an allelic frequency of 0.5%. Thirty-seven patients were homozygous for mutations in the SLC3A1 gene and another seven were heterozygous which implies that other genes may be involved in cystinuria. Future investigation of the non-type I cystinuria gene SLC7A9 may complement our results but recent studies also suggest the presence of other potential disease genes.

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“…highly expressed in renal and intestinal epithelial cells and in brain tissue (Furriols et al, 1993). Initially the Identification of genomic clones.…”

Section: Methodsmentioning

confidence: 99%