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Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Four deleterious mutation (R362C, T216M, M467K/T) in the coding region of SLC3A1 were identified. The intron variant c.1136+2/3delT in SLC3A1 gene probably affected the splicing process.
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Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated
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Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described.
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Analysis showing how different mutations in SLC3A1 and SLC7A9 affect severity of cystinuria.
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In a Saudi Arabian cohort of patients with cystinuria, two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8).
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Here, the authors report that the expression level of the solute carrier family 3, member 1 (SLC3A1), the cysteine carrier, tightly correlated with clinical stages and patients' survival. Elevated SLC3A1 expression accelerated the cysteine uptake and the accumulation of reductive glutathione (GSH), leading to reduced reactive oxygen species (ROS).
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We found a novel mutation in the acceptor region in exon 1 (SLC3A1 gene) and detected a heterozygosity status for the described patients.
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Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients
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Deletion of the rBAT C-terminal disulfide loop (residues 673-685) prevented maturation and prompted degradation of the transporter.
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M467T, T216M mutations not found in Iranian cystinuria patients
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Report no association of SLC3A1 mutations with clinical course of disease in cystinuria patients.
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We present a new pathogenic homozygous mutation, c.833T>C in exon 4 of SLC3A1 gene, in a girl with cystinuria, whose single symptom was an increasingly hyper-echogenic colon in the prenatal sonography as of 30 weeks of gestation.
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RBAT gene products, as the primary cause of cystinuria, may function as activators of the amino acid transport system in renal brush border membrane.
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We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B).
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Deletion of SLC3A1 is associated with Hypotonia-cystinuria syndrome.
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Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients.
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In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants are found in cystinuria patients.
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Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9.
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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%, which implies that other genes may be involved in cystinuria.
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in kidney cells, intracellular association of rBAT and b(0,+)AT is required for the surface expression of either subunit, which together form a functional heterocomplex at the apical cell membrane.
