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Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Evans, D Gareth; Messiaen, Ludwine M; Foulkes, William D; Irving, Rachel E A; Murray, Alexandra J; Perez-Becerril, Cristina; Rivera, Barbara; McDonald-McGinn, Donna M; Stevenson, David A; Smith, Miriam J.
Afiliação
  • Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre, Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester, UK. gareth.evans@mft.nhs.uk.
  • Messiaen LM; Medical Genomics Laboratory Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Foulkes WD; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Irving REA; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, UK.
  • Murray AJ; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, UK.
  • Perez-Becerril C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre, Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester, UK.
  • Rivera B; Program in Molecular Mechanisms and Experimental Therapy in Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
  • McDonald-McGinn DM; Division of Human Genetics and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Stevenson DA; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
  • Smith MJ; Division of Medical Genetics, Stanford University, Stanford, CA, USA.
Genet Med ; 23(9): 1779-1782, 2021 09.
Article em En | MEDLINE | ID: mdl-33879870
PURPOSE: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole-gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS. METHODS: We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS. RESULTS: There were no reports of schwannoma in over 1,500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole-gene deletion in LZTR1. Only 1 patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole-gene deletion of LZTR1. CONCLUSION: People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuroma Acústico / Neurofibromatoses / Síndrome de DiGeorge / Síndrome de Marfan / Neurilemoma Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuroma Acústico / Neurofibromatoses / Síndrome de DiGeorge / Síndrome de Marfan / Neurilemoma Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article