Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12188/26367
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dc.contributor.authorPavinato, Lisaen_US
dc.contributor.authorTrajkova, Slavicaen_US
dc.contributor.authorGrosso, Enricoen_US
dc.contributor.authorGiorgio, Elisaen_US
dc.contributor.authorBruselles, Alessandroen_US
dc.contributor.authorRadio, Francesca Clementinaen_US
dc.contributor.authorPippucci, Tommasoen_US
dc.contributor.authorDimartino, Paolaen_US
dc.contributor.authorTartaglia, Marcoen_US
dc.contributor.authorPetlichkovski, Aleksandaren_US
dc.contributor.authorDe Rubeis, Silviaen_US
dc.contributor.authorBuxbaum, Josephen_US
dc.contributor.authorFerrero, Giovanni Battistaen_US
dc.contributor.authorKeller, Robertoen_US
dc.contributor.authorBrusco, Alfredoen_US
dc.date.accessioned2023-04-24T09:04:46Z-
dc.date.available2023-04-24T09:04:46Z-
dc.date.issued2021-06-
dc.identifier.urihttp://hdl.handle.net/20.500.12188/26367-
dc.description.abstractDe novo variants in the WDR26 gene leading to haploinsufficiency have recently been associated with Skraban-Deardorff syndrome. This condition is an ultra-rare autosomal dominant neurodevelopmental disorder characterized by a broad range of clinical signs, including intellectual disability (ID), developmental delay (DD), seizures, abnormal facial features, feeding difficulties, and minor skeletal anomalies. Currently, 18 cases have been reported in the literature and for only 15 of them a clinical description is available. Here, we describe a child with Skraban-Deardorff syndrome associated with the WDR26 pathogenic de novo variant NM_025160.6:c.69dupC, p.(Gly24ArgfsTer48), and an adult associated with the pathogenic de novo variant c.1076G > A, p.(Trp359Ter). The adult patient was a 29-year-old female with detailed information on clinical history and pharmacological treatments since birth, providing an opportunity to map disease progression and patient management. By comparing our cases with published reports of Skraban-Deardorff syndrome, we provide a genetic and clinical summary of this ultrarare condition, describe the clinical management from childhood to adult age, and further expand on the clinical phenotype.en_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAmerican Journal of Medical Genetics Part Aen_US
dc.titleExpanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature reviewen_US
dc.typeArticleen_US
dc.identifier.doi10.1002/ajmg.a.62157-
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62157-
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62157-
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62157-
dc.identifier.volume185-
dc.identifier.issue6-
item.grantfulltextnone-
item.fulltextNo Fulltext-
crisitem.author.deptFaculty of Medicine-
Appears in Collections:Faculty of Medicine: Journal Articles
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