Manson, SamanthaCastilla Vallmanya, LauraCon, JamesAndrews, P. IanBalcells Comas, SusanaGrinberg Vaisman, Daniel RaúlKirk, E.P.Urreizti, Roser2020-02-072020-02-072019-02-220025-7974https://hdl.handle.net/2445/149573Rationale: 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.6 p.application/pdfengcc-by (c) Manson, Samantha et al., 2019http://creativecommons.org/licenses/by/3.0/esGlicolípidsTrastorns del desenvolupamentGlycolipidsDevelopmental disabilitiesinfo:eu-repo/semantics/article6849242020-02-07info:eu-repo/semantics/openAccess30813157