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NPHP-RC represents one of the most frequent monogenic causes of renal failure within the first three decades of life, but its molecular disease mechanisms remain unclear. Here, we identified biallelic ANKS6 mutations in two affected siblings with late-onset chronic kidney disease by whole-exome sequencing. We employed patient-derived fibroblasts generating an in vitro model to study the precise biological impact of distinct human ANKS6 mutations, completed by immunohistochemistry studies on renal biopsy samples. Functional studies using patient-derived cells showed an impaired integrity of the ciliary inversin compartment with reduced cilia length. Further analyses demonstrated that ANKS6 deficiency leads to a dysregulation of Hippo-signaling through nuclear yes-associated protein (YAP) imbalance and disrupted ciliary localization of YAP. In addition, an altered transcriptional activity of canonical Wnt target genes and altered expression of non-phosphorylated (active) \u03b2-catenin and phosphorylated glycogen synthase kinase 3\u03b2 were observed. Upon ciliation, ANKS6 deficiency revealed a deranged subcellular localization and expression of components of the endocytic recycling compartment. Our results demonstrate that ANKS6 plays a key role in regulating the Hippo pathway, and ANKS6 deficiency is linked to dysregulation of signaling pathways. Our study provides molecular clues in understanding pathophysiological mechanisms of NPHP-RC and may offer new therapeutic targets.<\/jats:p>","DOI":"10.1093\/hmg\/ddab322","type":"journal-article","created":{"date-parts":[[2021,11,5]],"date-time":"2021-11-05T23:49:19Z","timestamp":1636156159000},"page":"1357-1369","source":"Crossref","is-referenced-by-count":14,"title":["Biallelic<i>ANKS6<\/i>mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation"],"prefix":"10.1093","volume":"31","author":[{"given":"Hannah","family":"Schwarz","sequence":"first","affiliation":[{"name":"Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-N\u00fcrnberg (FAU), Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernt","family":"Popp","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany"},{"name":"Institute of Human Genetics, Friedrich-Alexander University Erlangen-N\u00fcrnberg, Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rannar","family":"Airik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Nephrology, Children\u2019s Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasrin","family":"Torabi","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-N\u00fcrnberg (FAU), Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl X","family":"Knaup","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-N\u00fcrnberg (FAU), Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Stoeckert","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-N\u00fcrnberg (FAU), Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Wiech","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Nephropathology Section, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Amann","sequence":"additional","affiliation":[{"name":"Department of Nephropathology, Institute of Pathology, University of Erlangen-N\u00fcrnberg, Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Friedrich-Alexander University Erlangen-N\u00fcrnberg, Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Schiffer","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-N\u00fcrnberg (FAU), Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S","family":"Wiesener","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-N\u00fcrnberg (FAU), Erlangen 91054, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7926-5930","authenticated-orcid":false,"given":"Markus","family":"Schueler","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Medical Intensive Care, Charit\u00e9 Universit\u00e4tsmedizin Berlin, Berlin 10117, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,11,5]]},"reference":[{"key":"2022050521130063500_ref1","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0140-6736(11)60178-5","article-title":"Chronic kidney disease","volume":"379","author":"Levey","year":"2012","journal-title":"Lancet"},{"key":"2022050521130063500_ref2","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1016\/S0140-6736(09)62004-3","article-title":"Early recognition and prevention of chronic kidney disease","volume":"375","author":"James","year":"2010","journal-title":"Lancet"},{"key":"2022050521130063500_ref3","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.kint.2017.06.018","article-title":"Common elements in rare kidney diseases: conclusions from a kidney disease: improving global outcomes (KDIGO) controversies conference","volume":"92","author":"Ayme","year":"2017","journal-title":"Kidney 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Engl. J. Med."},{"key":"2022050521130063500_ref6","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1159\/000320888","article-title":"Mechanisms of nephronophthisis and related ciliopathies","volume":"118","author":"Hurd","year":"2011","journal-title":"Nephron Exp. Nephrol."},{"key":"2022050521130063500_ref7","doi-asserted-by":"crossref","first-page":"F1159","DOI":"10.1152\/ajprenal.00118.2005","article-title":"An incredible decade for the primary cilium: a look at a once-forgotten organelle","volume":"289","author":"Davenport","year":"2005","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"2022050521130063500_ref8","doi-asserted-by":"crossref","first-page":"8","DOI":"10.3389\/fcell.2018.00008","article-title":"Signaling through the primary cilium","volume":"6","author":"Wheway","year":"2018","journal-title":"Front. Cell Dev. 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