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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann, Jil D; Kalanithy, Jeshurun C; Dworschak, Gabriel C; Ishorst, Nina; Mingardo, Enrico; Lopes, Filipa M; Ho, Yee Mang; Grote, Phillip; Lindenberg, Tobias T; Yilmaz, Öznur; Channab, Khadija; Seltzsam, Steve; Shril, Shirlee; Hildebrandt, Friedhelm; Boschann, Felix; Heinen, André; Jolly, Angad; Myers, Katherine; McBride, Kim; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Capra, Valeria; Accogli, Andrea; Maitz, Silvia; Spano, Alice; Olson, Rory J; Klee, Eric W; Lanpher, Brendan C; Jang, Se Song; Chae, Jong-Hee; Steinbauer, Philipp; Rieder, Dietmar; Janecke, Andreas R; Vodopiutz, Julia; Vogel, Ida; Blechingberg, Jenny; Cohen, Jennifer L; Riley, Kacie; Klee, Victoria; Walsh, Laurence E; Begemann, Matthias; Elbracht, Miriam; Eggermann, Thomas; Stoppe, Arzu; Stuurman, Kyra.
Affiliation
  • Stegmann JD; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. jil.stegmann@uni-bonn.de.
  • Kalanithy JC; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany. jil.stegmann@uni-bonn.de.
  • Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.
  • Ishorst N; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
  • Mingardo E; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.
  • Lopes FM; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
  • Ho YM; Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany.
  • Grote P; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.
  • Lindenberg TT; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
  • Yilmaz Ö; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
  • Channab K; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.
  • Seltzsam S; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.
  • Shril S; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany.
  • Hildebrandt F; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
  • Boschann F; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
  • Heinen A; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
  • Jolly A; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Myers K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • McBride K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Bekheirnia MR; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Bekheirnia N; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Scala M; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Morleo M; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.
  • Nigro V; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.
  • Torella A; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.
  • Pinelli M; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.
  • Capra V; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.
  • Accogli A; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Maitz S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.
  • Spano A; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Olson RJ; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Klee EW; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Lanpher BC; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Jang SS; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Chae JH; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.
  • Steinbauer P; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Janecke AR; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Vodopiutz J; Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy.
  • Vogel I; Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy.
  • Blechingberg J; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.
  • Cohen JL; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Riley K; Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.
  • Klee V; MBBM Foundation, Monza, Italy.
  • Walsh LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Begemann M; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Elbracht M; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Eggermann T; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
  • Stoppe A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Stuurman K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
NPJ Genom Med ; 9(1): 18, 2024 Mar 01.
Article in En | MEDLINE | ID: mdl-38429302
ABSTRACT
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2024 Document type: Article Affiliation country: Publication country: ENGLAND / ESCOCIA / GB / GREAT BRITAIN / INGLATERRA / REINO UNIDO / SCOTLAND / UK / UNITED KINGDOM
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2024 Document type: Article Affiliation country: Publication country: ENGLAND / ESCOCIA / GB / GREAT BRITAIN / INGLATERRA / REINO UNIDO / SCOTLAND / UK / UNITED KINGDOM