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Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1

dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPRUDHOMME, L.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDELLECI, Claire
IDREF: 132650967
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurelien
hal.structure.identifierCentre de résonance magnétique des systèmes biologiques [CRMSB]
dc.contributor.authorCHATEIL, Jean-Francois
dc.contributor.authorPRODHOMME, O.
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN-GILS, Julien
dc.date.accessioned2021-02-11T15:52:35Z
dc.date.available2021-02-11T15:52:35Z
dc.date.issued2020
dc.identifier.issn1769-7212en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/26228
dc.description.abstractEnNeurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Classical skeletal abnormalities encompass sphenoid wing dysplasia, congenital bowing of the long bones and vertebral osteopathy associated with non-dystrophic or dystrophic scoliosis found in about 10% of NF1 patients. We report a 17-year-old boy affected by NF1 with extreme severe spinal and thoracic malformations affecting bone and lung tissues, including hypoplasia of the right lung, unilateral costal agenesis and severe dystrophic scoliosis characterized by association of hemivertebra, fusion of adjacent vertebral bodies and defective pedicles. At birth, he presented an acute respiratory distress requiring invasive ventilator support. The diagnosis of NF1 was confirmed at age 5 by the identification of a de novo heterozygous mutation c.4537C > T, p.Arg1513* in NF1. Trio-based Whole Exome Sequencing (WES) was performed to exclude coexistence of a second hit but no clearly other pathogenic variant has been identified. Until now, only one similar NF1 patient suffering from the same association of severe scoliosis and chest deformity leading to respiratory insufficiency was described. The severe prenatal NF1-related scoliosis could explain the lung abnormal development by absence of mechanical constraints. Severe Thoracic and Spinal Bone Abnormalities may be part of the NF1 bone phenotype and should be taken into account to allow adequate genetic counseling.
dc.language.isoENen_US
dc.subjectHACS
dc.title.enSevere Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
dc.title.alternativeEur J Med Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.ejmg.2019.103815en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed31783133en_US
bordeaux.journalEuropean Journal of Medical Geneticsen_US
bordeaux.page103815en_US
bordeaux.volume63en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue4en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERM
bordeaux.institutionCNRS
bordeaux.teamHACSen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03139139
hal.version1
hal.date.transferred2021-02-11T15:52:38Z
hal.exporttrue
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