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http://hdl.handle.net/2445/149573
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DC Field | Value | Language |
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dc.contributor.author | Manson, Samantha | - |
dc.contributor.author | Castilla Vallmanya, Laura | - |
dc.contributor.author | Con, James | - |
dc.contributor.author | Andrews, P. Ian | - |
dc.contributor.author | Balcells Comas, Susana | - |
dc.contributor.author | Grinberg Vaisman, Daniel Raúl | - |
dc.contributor.author | Kirk, E.P. | - |
dc.contributor.author | Urreizti, Roser | - |
dc.date.accessioned | 2020-02-07T14:04:05Z | - |
dc.date.available | 2020-02-07T14:04:05Z | - |
dc.date.issued | 2019-02-22 | - |
dc.identifier.issn | 0025-7974 | - |
dc.identifier.uri | http://hdl.handle.net/2445/149573 | - |
dc.description.abstract | Rationale: Trio family-based whole exome sequencing (WES) is a powerful tool in the diagnosis of rare neurodevelopmental diseases, even in patients with the unclear diagnosis. There have been previous reports of variants in the phosphatidylinositol glycan anchor biosynthesis class T (PIGT) gene associated with multiple congenital anomalies, with a total of 14 affected individuals across 8 families. Patient concerns: An 18-month-old boy of Greek ancestry presented with global developmental delay, generalized tonic-clonic seizures, hypotonia, renal cysts, esotropia, bilateral undescended testes, bilateral vesicoureteric reflux, marked cardiac dextroposition, bilateral talipes equinovarus, and dysmorphic features. Diagnosis: WES revealed 2 compound heterozygous variants in the PIGT gene, c.[494-2A>G]; [547A>C]/p.[Asp122Glyfs*35]; [Thr183Pro]. The splicing mutation was demonstrated to lead to the skipping of exon 4. Interventions: Seizures, infections, and other main symptoms were treated. Outcomes: The patient died at 2 years of age before the molecular diagnosis was achieved. Genetic counseling has been offered to the family. Lessons: Most of the clinical features of the patient are in agreement with the previously described PIGT cases corroborating the usefulness of WES as a diagnostic tool. | - |
dc.format.extent | 6 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Lippincott, Williams & Wilkins. Wolters Kluwer Health | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1097/MD.0000000000014524 | - |
dc.relation.ispartof | Medicine, 2019, vol. 98, num. 8, p. e14529 | - |
dc.relation.uri | https://doi.org/10.1097/MD.0000000000014524 | - |
dc.rights | cc-by (c) Manson, Samantha et al., 2019 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
dc.subject.classification | Glicolípids | - |
dc.subject.classification | Trastorns del desenvolupament | - |
dc.subject.other | Glycolipids | - |
dc.subject.other | Developmental disabilities | - |
dc.title | Case report of a child bearing a novel deleterious splicing variant in PIGT | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 684924 | - |
dc.date.updated | 2020-02-07T14:04:05Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 30813157 | - |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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684924.pdf | 457.53 kB | Adobe PDF | View/Open |
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