dc.creatorHoffjan, Sabine
dc.creatorIbisler, Aysegül
dc.creatorTschentscher, Anne
dc.creatorDekomien, Gabriele
dc.creatorBidinost, Carla
dc.creatorRosa, Alberto Luis
dc.date.accessioned2019-02-26T14:38:55Z
dc.date.accessioned2022-10-15T08:47:27Z
dc.date.available2019-02-26T14:38:55Z
dc.date.available2022-10-15T08:47:27Z
dc.date.created2019-02-26T14:38:55Z
dc.date.issued2016-02
dc.identifierHoffjan, Sabine; Ibisler, Aysegül; Tschentscher, Anne; Dekomien, Gabriele; Bidinost, Carla; et al.; WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature; Academic Press Ltd - Elsevier Science Ltd; Molecular And Cellular Probes; 30; 1; 2-2016; 44-49
dc.identifier0890-8508
dc.identifierhttp://hdl.handle.net/11336/70842
dc.identifierCONICET Digital
dc.identifierCONICET
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/4366775
dc.description.abstractMutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed by a secondary neurological decline with parkinsonism and/or dementia in adolescence or early adulthood. Recent reports suggest that WDR45 mutations are associated with a broader phenotypic spectrum. We identified a novel splice site mutation (c.440-2 A > G) in a 5-year-old Argentinian patient with Rett-like syndrome, exhibiting developmental delay, microcephaly, seizures and stereotypic hand movements, and discuss this finding, together with a review of the literature. Additional patients with a clinical diagnosis of Rett (-like) syndrome were also found to carry WDR45 mutations before (or without) clinical decline or signs of iron accumulation by magnetic resonance imaging (MRI). This information indicates that WDR45 mutations should be added to the growing list of genetic alterations linked to Rett-like syndrome. Further, clinical symptoms associated with WDR45 mutations ranged from early-onset epileptic encephalopathy in a male patient with a deletion of WDR45 to only mild cognitive delay in a female patient, suggesting that analysis of this gene should be considered more often in patients with developmental delay, regardless of severity. The increasing use of next generation sequencing technologies as well as longitudinal follow-up of patients with an early diagnosis will help to gain additional insight into the phenotypic spectrum associated with WDR45 mutations.
dc.languageeng
dc.publisherAcademic Press Ltd - Elsevier Science Ltd
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1016/j.mcp.2016.01.003
dc.relationinfo:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S0890850816300032
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectBPAN
dc.subjectINTELLECTUAL DISABILITY
dc.subjectNBIA
dc.subjectRETT SYNDROME
dc.subjectWDR45
dc.titleWDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:ar-repo/semantics/artículo
dc.typeinfo:eu-repo/semantics/publishedVersion


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