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dc.contributor.author
Hoffjan, Sabine
dc.contributor.author
Ibisler, Aysegül
dc.contributor.author
Tschentscher, Anne
dc.contributor.author
Dekomien, Gabriele
dc.contributor.author
Bidinost, Carla
dc.contributor.author
Rosa, Alberto Luis
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dc.date.available
2019-02-26T14:38:55Z
dc.date.issued
2016-02
dc.identifier.citation
Hoffjan, 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.identifier.issn
0890-8508
dc.identifier.uri
http://hdl.handle.net/11336/70842
dc.description.abstract
Mutations 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.format
application/pdf
dc.language.iso
eng
dc.publisher
Academic Press Ltd - Elsevier Science Ltd
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Bpan
dc.subject
Intellectual Disability
dc.subject
Nbia
dc.subject
Rett Syndrome
dc.subject
Wdr45
dc.subject.classification
Medicina Critica y de Emergencia
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-02-22T18:15:21Z
dc.journal.volume
30
dc.journal.number
1
dc.journal.pagination
44-49
dc.journal.pais
Estados Unidos
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dc.journal.ciudad
Nueva York
dc.description.fil
Fil: Hoffjan, Sabine. Ruhr University Bochum; Alemania. Center for Rare Diseases Ruhr; Alemania
dc.description.fil
Fil: Ibisler, Aysegül. Ruhr University Bochum; Alemania
dc.description.fil
Fil: Tschentscher, Anne. Ruhr University Bochum; Alemania
dc.description.fil
Fil: Dekomien, Gabriele. Ruhr University Bochum; Alemania
dc.description.fil
Fil: Bidinost, Carla. Fundación Allende; Argentina. Sanatorio Allende; Argentina
dc.description.fil
Fil: Rosa, Alberto Luis. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación Allende; Argentina. Sanatorio Allende; Argentina
dc.journal.title
Molecular And Cellular Probes
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1016/j.mcp.2016.01.003
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S0890850816300032
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