Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Affiliations

• ¹ Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
• ² Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
• ³ Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
• ⁴ Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic.
• ⁵ Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
• ⁶ Department of Internal Medicine, Section Nephrology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
• ⁷ Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: m.h.de.borst@umcg.nl.