title: Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
abstract: OBJECTIVE
  We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation.
  
  
  METHODS
  We used exome sequencing, Sanger sequencing, and copy number analysis to screen 65 unrelated individuals with schwannomatosis who were negative for a germline NF2 or SMARCB1 mutation. We also screened samples from 39 patients with a unilateral vestibular schwannoma (UVS), plus at least one other schwannoma, but who did not have an identifiable germline or mosaic NF2 mutation.
  
  
  RESULTS
  We identified germline LZTR1 mutations in 6 of 16 patients (37.5%) with schwannomatosis who had at least one affected relative, 11 of 49 (22%) sporadic patients, and 2 of 39 patients with UVS in our cohort. Three germline mutation-positive patients in total had developed a UVS. Mosaicism was excluded in 3 patients without germline mutation in NF2, SMARCB1, or LZTR1 by mutation screening in 2 tumors from each.
  
  
  CONCLUSIONS
  Our data confirm the relationship between mutations in LZTR1 and schwannomatosis. They indicate that germline mutations in LZTR1 confer an increased risk of vestibular schwannoma, providing further overlap with NF2, and that further causative genes for schwannomatosis remain to be identified.
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Miriam J
authors.initials: MJ
authors.lastname: Smith
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Bertand
authors.initials: B
authors.lastname: Isidor
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Beetz
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Simon G
authors.initials: SG
authors.lastname: Williams
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Sanjeev S
authors.initials: SS
authors.lastname: Bhaskar
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Wilfrid
authors.initials: W
authors.lastname: Richer
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: James
authors.initials: J
authors.lastname: O'Sullivan
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Beverly
authors.initials: B
authors.lastname: Anderson
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Sarah B
authors.initials: SB
authors.lastname: Daly
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Jill E
authors.initials: JE
authors.lastname: Urquhart
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Alan
authors.initials: A
authors.lastname: Fryer
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Cecilie F
authors.initials: CF
authors.lastname: Rustad
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Samantha J
authors.initials: SJ
authors.lastname: Mills
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Amir
authors.initials: A
authors.lastname: Samii
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Daniel
authors.initials: D
authors.lastname: du Plessis
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Dorothy
authors.initials: D
authors.lastname: Halliday
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Sebastien
authors.initials: S
authors.lastname: Barbarot
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Bourdeaut
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France. gareth.evans@cmft.nhs.uk William.newman@manchester.ac.uk.
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.affiliation: From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France. gareth.evans@cmft.nhs.uk William.newman@manchester.ac.uk.
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009442:Neurilemmoma / Q000235:genetics*; D017253:Neurofibromatoses / Q000235:genetics*; D009464:Neuroma, Acoustic / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C509917:LZTR1 protein, human; D014157:Transcription Factors