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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

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Title: Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Authors: Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands., George A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, 20892, USA., Ratbi I; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco., Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Elalaoui SC; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco., Moosa S; Institute of Human Genetics, University Medical Center Goettingen, 37073, Goettingen, Germany.; Boston Children's Hospital and Harvard Medical School, Boston, MA, 02215, USA., Bharti S; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, 20892, USA.; Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA., Sharma R; Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA., Abu-Asab M; Section of Histopathology, National Eye Institute, NIH, Bethesda, MD, 20892, USA., Onojafe F; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, 20892, USA., Adadi N; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco., Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands., Laarabi FZ; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090, Rabat, Morocco., Lamsyah Y; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco., Elorch H; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco., Chebbar I; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco., Postma AV; Amsterdam UMC, University of Amsterdam, Department of Anatomy, Embryology & Physiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, The Netherlands., Lougaris V; Pediatrics Clinic and Institute for Molecular Medicine 'A. Nocivelli', Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, 25123, Brescia, Italy., Plebani A; Pediatrics Clinic and Institute for Molecular Medicine 'A. Nocivelli', Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, 25123, Brescia, Italy., Altmueller J; Cologne Center for Genomics University of Cologne, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, 50931, Germany.; Institute of Human Genetics, University of Cologne, 50931, Cologne, Germany., Kyrieleis H; Department of Pediatrics, Bethanien Hospital, Cologne, 42699, Germany., Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel., McNeill H; Department of Developmental Biology, Washington University School of Medicine, St. Louis, 63110, MO, USA., Bharti K; Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA., Lyonnet S; Laboratory of embryology and genetics of human malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, 75015, France., Wollnik B; Institute of Human Genetics, University Medical Center Goettingen, 37073, Goettingen, Germany., Henrion-Caude A; INSERM UMR-781, Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, 75015, France., Berraho A; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Bezzina CR; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands. c.r.bezzina@amc.uva.nl., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, 20892, USA. brooksb@nei.nih.gov., Sefiani A; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco. sefianigen@hotmail.com.; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090, Rabat, Morocco. sefianigen@hotmail.com.
Source: Nature communications [Nat Commun] 2019 Mar 12; Vol. 10 (1), pp. 1180. Date of Electronic Publication: 2019 Mar 12.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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
Database: MEDLINE Ultimate
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ISSN:2041-1723
DOI:10.1038/s41467-019-08547-w