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Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

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Title: Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Authors: Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hamburg Center for Kidney Health (HCKH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Salmanullah D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Liang L; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Gauntner V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Krueger K; Department of Pharmacology, Dalhousie University, Halifax, NS, Canada., Qi J; Department of Pharmacology, Dalhousie University, Halifax, NS, Canada., Normand J; Department of Pharmacology, Dalhousie University, Halifax, NS, Canada., Sharma V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Ranga A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Rubin A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Ball D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Hong S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Lemberg K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Saida K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Merz LM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, University Leipzig, Leipzig, Germany., Sever S; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of Renal Medicine, Massachusetts General Hospital, Boston, MA, USA., Issac B; Research Informatics, Information Technology, Boston Children's Hospital, Boston, MA, USA., Ma Q; Research Informatics, Information Technology, Boston Children's Hospital, Boston, MA, USA., Sun L; Research Informatics, Information Technology, Boston Children's Hospital, Boston, MA, USA., Billing AM; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Demir F; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Rinschen MM; Hamburg Center for Kidney Health (HCKH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Aarhus Institute of Advanced Studies, Aarhus University, Aarhus, Denmark.; Department of Medicine, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Reusch B; Institute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Beck BB; Institute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Guerrero-Castillo S; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Gomez AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Renal Medicine, Massachusetts General Hospital, Boston, MA, USA.; Kidney Disease Initiative and Medical Population Genetics Group, Broad Institute, Cambridge, MA, USA.; Division of Renal Medicine, Brigham and Women's Hospital, Boston, MA, USA., McNulty MT; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Kidney Disease Initiative and Medical Population Genetics Group, Broad Institute, Cambridge, MA, USA., Sampson MG; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Kidney Disease Initiative and Medical Population Genetics Group, Broad Institute, Cambridge, MA, USA.; Division of Renal Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Al-Hamed MH; Clinical Genomics Department, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Saleh MM; Section of Medical Genetics, Children Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Shalaby MA; Pediatric Nephrology Centre of Excellence, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.; Pediatric Department, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., Kari JA; Pediatric Nephrology Centre of Excellence, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.; Pediatric Department, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., Fawcett JP; Department of Pharmacology, Dalhousie University, Halifax, NS, Canada.; Department of Surgery, Dalhousie University, Halifax, NS, Canada., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. friedhelm.hildebrandt@childrens.harvard.edu., Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. amar.majmundar@childrens.harvard.edu.
Corporate Authors: Nephrotic Syndrome Study Network (NEPTUNE)
Source: Nature communications [Nat Commun] 2025 Nov 27; Vol. 16 (1), pp. 10654. Date of Electronic Publication: 2025 Nov 27.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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  Data: Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
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