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Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
Affiliation:1. Neonatal Intensive Care Unit, Jessop Wing, Tree Root Walk, Sheffield, UK;2. Sheffield Diagnostic Genetics Service, Sheffield Children''s NHS Foundation Trust, Sheffield, UK;3. Sheffield Clinical Genetics Service, Sheffield Children''s NHS Foundation Trust, Sheffield, UK;4. Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK;1. Diagnosis and Development, Murdoch Children''s Research Institute, Royal Children''s Hospital, Melbourne, Parkville, 3052, Australia;2. Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, 3052, Australia;3. School of Psychology and Public Health, La Trobe University, Melbourne, 3083, Australia;4. Division of Genetics and Genomics, Boston Children''s Hospital, Boston, MA, USA;5. The University of Newcastle, Newcastle, NSW, Australia;6. Department of Psychiatry, Boston Children''s Hospital, Boston, MA, USA;1. Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France;2. Lyon Neuroscience Research Center, GENDEV Team, CNRS UMR 5292, INSERM U1028, UCBL1, Bron, France;3. Université Claude Bernard Lyon 1, France;4. Service de Génétique, Hôpital de la Timone Enfant, APHM, Marseille, France;5. Division of Metabolics, Children''s Hospital of Eastern Ontario, Ottawa, Ontario, Canada;6. Centre Hospitalier de Valence, Service de pédiatrie, Valence, France;1. Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain;2. Department of Medical Oncology, Clinical University Hospital Virgen Arrixaca, Spain;3. Department of Medical Oncology, Clinical University Hospital Morales Meseguer, Spain;1. Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, China;2. Henan Provincial Key Laboratory of Children''s Genetics and Metabolic Diseases, Children''s Hospital Affiliated to Zhengzhou University, Zhengzhou Children''s Hospital, Zhengzhou, He Nan Province, China, No-33, Longhu Waihuan East Road, Zhengzhou, 450018, China;3. Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, China;4. The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, China;1. Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel;2. Pediatric Genetics Clinic, Schneider Children''s Medical Center of Israel, Petach Tikva, Israel;3. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;4. Felsenstein Medical Research Center, Petach Tikva, Israel;5. Genetics Institute, Meir Medical Center, Kfar Saba, Israel
Abstract:Neurofibromatosis type 1 (NF1; OMIM #162200) is the commonest multi-systemic neurocutaneous tumour-predisposition disorder. It has an age-related complete penetrance but a highly variable inter- and intra-familial expressivity. This article summarizes the clinical features and molecular characteristics of 832 clinically or molecularly confirmed NF1 patients from 697 unrelated families recruited from a single centre in Hong Kong diagnosed during the 16 years period from Jan 2005 to Jan 2021. In this study, we have estimated the incidences of clinical features, reported on the molecular findings and explored new genotype-phenotype correlations.
Keywords:Neurofibromatosis type 1  Genotype-phenotype association  NF1 microdeletion
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