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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth, Thomas Eggermann

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. More... »

PAGES

278

Journal

TITLE

BMC Nephrology

ISSUE

1

VOLUME

19

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12882-018-1080-5

DOI

http://dx.doi.org/10.1186/s12882-018-1080-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107740922

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30342472


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