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Article

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

Journal of the American Society of Nephrology : JASN - 1 Aug 2014

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

Abstract excerpt

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 in ANKS6 associated with an NPHP-like phenotype. Furthermore, we identified four additional...

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Identifiers

PMID: 24610927
DOI: 10.1681/ASN.2013060646
PMCID: PMC4116054

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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