Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

Autor: Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A

Publikováno v: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 69-72 (2024)

Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The di

Externí odkaz: https://doaj.org/article/eea790235a3d499089596940d6521207

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

Autor: Ouboukss F; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco. Fatimaouboukss@gmail.com.; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco. Fatimaouboukss@gmail.com., Adadi N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco., Amasdl S; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco., Smaili W; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco., Laarabi FZ; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco., Lyahyai J; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco., Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco., Ratbi I; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.

Publikováno v: Journal of applied genetics [J Appl Genet] 2024 May; Vol. 65 (2), pp. 303-308. Date of Electronic Publication: 2023 Nov 21.

Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.

Autor: Missoum H; Laboratory of Human Pathologies Biology, Department of Biology, Faculty of Sciences, and Genomic Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco.; Laboratory Autoimmunity, Department of Immunology, National Institute of Hygiene, Rabat, Morocco., Adadi N; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Alami M; Laboratory of Microbiology and Molecular Biology, Faculty of Science, Mohammed V University, Rabat, Morocco., Toufik H; Rheumatology Department, Faculty of Medicine and Pharmacy, Military Hospital, Mohammed V University, Rabat, Morocco., Bouyahya A; Laboratory of Human Pathologies Biology, Department of Biology, Faculty of Sciences, and Genomic Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco., Laarabi FZ; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Bachir F; Laboratory of Flow Cytometry, National Institute of Hygiene, Rabat, Morocco., Maghraoui AE; Rheumatology Department, Faculty of Medicine and Pharmacy, Military Hospital, Mohammed V University, Rabat, Morocco., Bakri Y; Laboratory of Human Pathologies Biology, Department of Biology, Faculty of Sciences, and Genomic Center of Human Pathologies, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, Morocco.

Publikováno v: The Pan African medical journal [Pan Afr Med J] 2022 Feb 11; Vol. 41, pp. 121. Date of Electronic Publication: 2022 Feb 11 (Print Publication: 2022).

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

Autor: 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.

Publikováno v: Nature communications [Nat Commun] 2019 Mar 12; Vol. 10 (1), pp. 1180. Date of Electronic Publication: 2019 Mar 12.

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

Autor: Doubaj Y; Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V, Rabat, Morocco. y.doubaj@gmail.com.; Département de Génétique Médicale, Institut National d'Hygiène, 27, Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco. y.doubaj@gmail.com., Smaili W; Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V, Rabat, Morocco., Laarabi FZ; Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V, Rabat, Morocco., Sefiani A; Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, 27, Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco.

Publikováno v: Journal of medical case reports [J Med Case Rep] 2017 Jun 15; Vol. 11 (1), pp. 158. Date of Electronic Publication: 2017 Jun 15.