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. 2018 Oct 20;19(1):278.
doi: 10.1186/s12882-018-1080-5.

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

Kathrin Olschok  1 , Udo Vester  2 , Sven Lahme  3 , Ingo Kurth  1 , Thomas Eggermann  4
Affiliations

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

Kathrin Olschok et al. BMC Nephrol. .

Abstract

Background: Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative. The SLC3A1/rBAT gene encodes the heavy subunit of the heterodimeric rBAT-b0,+AT transporter, whereas the light chain is encoded by the SLC7A9/ b0,+AT gene. In nearly 85% of patients mutations in both genes are detectable, but a significant number of patients currently remains without a molecular diagnosis. Thus, the existence of a further cystinuria gene had been suggested, and the recently identified AGT1/SLC7A13 represents the long-postulated partner of rBAT and third cystinuria candidate gene.

Methods: We screened a cohort of 17 cystinuria patients for SLC7A13 variants which were negative for SLC3A1 and SLC7A9 mutations.

Results: Despite strong evidences for an involvement of SLC7A13 mutations in cystinuria, we could not confirm a relevant role of SLC7A13 for the disease.

Conclusion: With the exclusion of SLC7A13/AGT1 as the third cystinuria gene accounting for the SLC3A1 and SLC7A9 mutation negative cases, it becomes obvious that other genetic factors should be responsible for the cystinuria phenotype in nearly 15% of patients.

Keywords: AGT1/SLC7A13; Cystinuria; Mutation.

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Conflict of interest statement

Ethics approval and consent to participate

All patients agreed in participation on the basis of a written informed consent template which also includes the use of data for publication. Genetic testing is approved by the ethical committee of the University Hospital Aachen (EK302–16).

The dataset(s) supporting the conclusions of this article is(are) included within the article.

Consent for publication

not applicable.

Competing interests

The authors declare that they have no competing interests.

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