Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/149573
Title: Case report of a child bearing a novel deleterious splicing variant in PIGT
Author: Manson, Samantha
Castilla Vallmanya, Laura
Con, James
Andrews, P. Ian
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
Kirk, E.P.
Urreizti, Roser
Keywords: Glicolípids
Trastorns del desenvolupament
Glycolipids
Developmental disabilities
Issue Date: 22-Feb-2019
Publisher: Lippincott, Williams & Wilkins. Wolters Kluwer Health
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.
Note: Reproducció del document publicat a: https://doi.org/10.1097/MD.0000000000014524
It is part of: Medicine, 2019, vol. 98, num. 8, p. e14529
URI: http://hdl.handle.net/2445/149573
Related resource: https://doi.org/10.1097/MD.0000000000014524
ISSN: 0025-7974
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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