Case report of a child bearing a novel deleterious splicing variant in PIGT

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 asso...

ver descrição completa

Detalhes bibliográficos
Autores: Manson, Samantha, Castilla Vallmanya, Laura, Con, James, Andrews, P. Ian, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Kirk, E.P., Urreizti, Roser
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/149573
Acesso em linha:https://hdl.handle.net/2445/149573
Access Level:acceso abierto
Palavra-chave:Glicolípids
Trastorns del desenvolupament
Glycolipids
Developmental disabilities
id ES_f4bf71f16a42a072ac589bcb1d082fff
oai_identifier_str oai:recercat.cat:2445/149573
network_acronym_str ES
network_name_str España
repository_id_str
spelling Case report of a child bearing a novel deleterious splicing variant in PIGTManson, SamanthaCastilla Vallmanya, LauraCon, JamesAndrews, P. IanBalcells Comas, SusanaGrinberg Vaisman, Daniel RaúlKirk, E.P.Urreizti, RoserGlicolípidsTrastorns del desenvolupamentGlycolipidsDevelopmental disabilitiesRationale: 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.Lippincott, Williams & Wilkins. Wolters Kluwer Health2020202020192020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion6 p.application/pdfhttps://hdl.handle.net/2445/149573Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1097/MD.0000000000014524Medicine, 2019, vol. 98, num. 8, p. e14529https://doi.org/10.1097/MD.0000000000014524cc-by (c) Manson, Samantha et al., 2019http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:recercat.cat:2445/1495732026-05-29T05:05:01Z
dc.title.none.fl_str_mv Case report of a child bearing a novel deleterious splicing variant in PIGT
title Case report of a child bearing a novel deleterious splicing variant in PIGT
spellingShingle Case report of a child bearing a novel deleterious splicing variant in PIGT
Manson, Samantha
Glicolípids
Trastorns del desenvolupament
Glycolipids
Developmental disabilities
title_short Case report of a child bearing a novel deleterious splicing variant in PIGT
title_full Case report of a child bearing a novel deleterious splicing variant in PIGT
title_fullStr Case report of a child bearing a novel deleterious splicing variant in PIGT
title_full_unstemmed Case report of a child bearing a novel deleterious splicing variant in PIGT
title_sort Case report of a child bearing a novel deleterious splicing variant in PIGT
dc.creator.none.fl_str_mv Manson, Samantha
Castilla Vallmanya, Laura
Con, James
Andrews, P. Ian
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
Kirk, E.P.
Urreizti, Roser
author Manson, Samantha
author_facet Manson, Samantha
Castilla Vallmanya, Laura
Con, James
Andrews, P. Ian
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
Kirk, E.P.
Urreizti, Roser
author_role author
author2 Castilla Vallmanya, Laura
Con, James
Andrews, P. Ian
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
Kirk, E.P.
Urreizti, Roser
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Glicolípids
Trastorns del desenvolupament
Glycolipids
Developmental disabilities
topic Glicolípids
Trastorns del desenvolupament
Glycolipids
Developmental disabilities
description 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.
publishDate 2019
dc.date.none.fl_str_mv 2019
2020
2020
2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/149573
url https://hdl.handle.net/2445/149573
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1097/MD.0000000000014524
Medicine, 2019, vol. 98, num. 8, p. e14529
https://doi.org/10.1097/MD.0000000000014524
dc.rights.none.fl_str_mv cc-by (c) Manson, Samantha et al., 2019
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Manson, Samantha et al., 2019
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 6 p.
application/pdf
dc.publisher.none.fl_str_mv Lippincott, Williams & Wilkins. Wolters Kluwer Health
publisher.none.fl_str_mv Lippincott, Williams & Wilkins. Wolters Kluwer Health
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869424500135690240
score 15.811543

Registos relacionados