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CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorANGELINI, Chloe
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurelien
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.contributor.authorESPIL-TARIS, Caroline
dc.contributor.authorICHINOSE, Nobuyasu
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLASSEAUX, Eulalie
hal.structure.identifierNeurocentre Magendie : Physiopathologie de la Plasticité Neuronale [U1215 Inserm - UB]
dc.contributor.authorTOURDIAS, Thomas
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.date.accessioned2021-10-26T14:44:32Z
dc.date.available2021-10-26T14:44:32Z
dc.date.issued2021-04
dc.identifier.issn1769-7212en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/117080
dc.description.abstractEnDuane retraction syndrome is a congenital eye movement disorder characterized by a failure of abducens nerve to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. There is a genetic heterogeneity in Duane retraction syndrome (DURS). DURS maps to chromosome 8q13 in some patients, and pathogenic variants in CHN1 and MAFB genes are known to lead to DURS. We report here a child and his father with Duane retraction syndrome, associated to swallowing difficulties and unilateral trapeze aplasia. A whole exome sequencing revealed a heterozygous missense variant in CHN1 gene. This gene encodes GTPase-activating protein and is involved in the assembly of neuronal locomotor circuits. A patient with a 8q deletion has previously been described with a Duane retraction syndrome associated to trapeze aplasia. We provide an additional description to support the role in cranial nerves development of the CHN1 gene.
dc.language.isoENen_US
dc.subject.enCranial nerves
dc.subject.enDuane syndrome
dc.subject.enNeurodevelopment
dc.title.enCHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.ejmg.2021.104188en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed33667650en_US
bordeaux.journalEuropean Journal of Medical Geneticsen_US
bordeaux.volume64en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue4en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03404531
hal.version1
hal.date.transferred2021-10-26T14:44:43Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
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