Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Autor: Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Johns E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Uhas KA; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia., Armstrong L; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Bosanko KA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Baker L; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Bengala M; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy., Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Chambers C; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia., Clarkson LK; Greenwood Genetic Center, Greenwood, South Carolina., Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Cortés FM; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile., Cunningham M; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., D'Agostino MD; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy., Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Fox S; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Giugliano T; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Giustini S; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy., Goetsch A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Greenwood RS; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Gupta P; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey., Haan E; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia., Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Haygarth TL; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina., Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Hodge K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Keller K; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Kochhar A; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Liebelt J; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Lichty A; Greenwood Genetic Center, Greenwood, South Carolina., Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium., Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., McGregor LK; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Melis D; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy., Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Ortenberg J; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Panzer K; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa., Pappas JG; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York., Pierpont ME; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota., Piluso G; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Pinna V; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Pivnick EK; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee., Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Powell CM; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Ruhrman Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sandaradura SA; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Santoro C; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Schatz UA; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schreiber A; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Sellars EA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Sheffer R; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Slopis JM; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine., Spalice A; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy., Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Theos A; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama., Tomlinson GE; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas., Tran G; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas., Trapane PL; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Van den Ende J; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia., Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Yohay KH; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Zurcher V; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Eoli M; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., De Luca A; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

Publikováno v: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 299-315. Date of Electronic Publication: 2019 Oct 26.