Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD

Ekim Z. Taskiran, Emine Korkmaz, Safak Gucer, Can Kosukcu, Figen Kaymaz, Cansu Koyunlar, Elizabeth C. Bryda, Moumita Chaki, Dongmei Lu, Komal Vadnagara, Cengiz Candan, Rezan Topaloglu, Franz Schaefer, Massimo Attanasio, Carsten Bergmann, Fatih Ozaltin

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in ,50% of patients. We performed genome-wide analysis followed by targeted resequencing in a Turkish consanguineous multiplex family and identified a canonic splice site mutation inANKS6 associatedwith anNPHP-like phenotype. Furthermore,we identified four additional ANKS6 variants in a cohort of 56 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or unknown etiology. Immunohistochemistry in human embryonic kidney tissue demonstrated that the expression patterns of ANKS6 change substantially during development. Furthermore, we detected increased levels of both total and active b-catenin in precystic tubuli in Han:SPRD Cy/+ rats. Overall, these data indicate the importance of ANKS6 in human kidney development and suggest a mechanism by which mutations in ANKS6 may contribute to an NPHP-like phenotype in humans.

Original languageEnglish (US)
Pages (from-to)1653-1661
Number of pages9
JournalJournal of the American Society of Nephrology
Issue number8
StatePublished - Aug 1 2014

ASJC Scopus subject areas

  • Medicine(all)


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