Nature Communications (Mar 2019)
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
- Najim Lahrouchi,
- Aman George,
- Ilham Ratbi,
- Ronen Schneider,
- Siham C. Elalaoui,
- Shahida Moosa,
- Sanita Bharti,
- Ruchi Sharma,
- Mones Abu-Asab,
- Felix Onojafe,
- Najlae Adadi,
- Elisabeth M. Lodder,
- Fatima-Zahra Laarabi,
- Yassine Lamsyah,
- Hamza Elorch,
- Imane Chebbar,
- Alex V. Postma,
- Vassilios Lougaris,
- Alessandro Plebani,
- Janine Altmueller,
- Henriette Kyrieleis,
- Vardiella Meiner,
- Helen McNeill,
- Kapil Bharti,
- Stanislas Lyonnet,
- Bernd Wollnik,
- Alexandra Henrion-Caude,
- Amina Berraho,
- Friedhelm Hildebrandt,
- Connie R. Bezzina,
- Brian P. Brooks,
- Abdelaziz Sefiani
Affiliations
- Najim Lahrouchi
- Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences
- Aman George
- Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH
- Ilham Ratbi
- Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat
- Ronen Schneider
- Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School
- Siham C. Elalaoui
- Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat
- Shahida Moosa
- Institute of Human Genetics, University Medical Center Goettingen
- Sanita Bharti
- Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH
- Ruchi Sharma
- Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH
- Mones Abu-Asab
- Section of Histopathology, National Eye Institute, NIH
- Felix Onojafe
- Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH
- Najlae Adadi
- Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat
- Elisabeth M. Lodder
- Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences
- Fatima-Zahra Laarabi
- Département de génétique médicale, Institut National d’Hygiène
- Yassine Lamsyah
- Service d’Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat
- Hamza Elorch
- Service d’Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat
- Imane Chebbar
- Service d’Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat
- Alex V. Postma
- Amsterdam UMC, University of Amsterdam, Department of Anatomy, Embryology & Physiology, Amsterdam Cardiovascular Sciences
- Vassilios Lougaris
- Pediatrics Clinic and Institute for Molecular Medicine “A. Nocivelli”, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia
- Alessandro Plebani
- Pediatrics Clinic and Institute for Molecular Medicine “A. Nocivelli”, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia
- Janine Altmueller
- Cologne Center for Genomics University of Cologne
- Henriette Kyrieleis
- Department of Pediatrics, Bethanien Hospital
- Vardiella Meiner
- Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center
- Helen McNeill
- Department of Developmental Biology, Washington University School of Medicine
- Kapil Bharti
- Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH
- Stanislas Lyonnet
- 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
- Bernd Wollnik
- Institute of Human Genetics, University Medical Center Goettingen
- Alexandra Henrion-Caude
- INSERM UMR-781, Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP)
- Amina Berraho
- Service d’Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat
- Friedhelm Hildebrandt
- Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School
- Connie R. Bezzina
- Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences
- Brian P. Brooks
- Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH
- Abdelaziz Sefiani
- Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat
- DOI
- https://doi.org/10.1038/s41467-019-08547-w
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 11
Abstract
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the phenotype in mutant mice and zebrafish.
