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...

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Autores: Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Recursos:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p16006
Acesso em linha:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16006
Access Level:acceso abierto
Palavra-chave:developmental delay
epilepsy
functional studies
hypotonia
PIGT
splicing
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spelling Case report of a child bearing a novel deleterious splicing variant in PIGTMason SCastilla-Vallmanya LJames CAndrews PIBalcells SGrinberg DKirk EPUrreizti Rdevelopmental delayepilepsyfunctional studieshypotoniaPIGTsplicingRationale: 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 & WILKINS2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16006MEDICINEISSN: 00257974ISSNe: 15365964reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p160062026-05-27T12:37:41Z
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
Mason S
developmental delay
epilepsy
functional studies
hypotonia
PIGT
splicing
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 Mason S
Castilla-Vallmanya L
James C
Andrews PI
Balcells S
Grinberg D
Kirk EP
Urreizti R
author Mason S
author_facet Mason S
Castilla-Vallmanya L
James C
Andrews PI
Balcells S
Grinberg D
Kirk EP
Urreizti R
author_role author
author2 Castilla-Vallmanya L
James C
Andrews PI
Balcells S
Grinberg D
Kirk EP
Urreizti R
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv developmental delay
epilepsy
functional studies
hypotonia
PIGT
splicing
topic developmental delay
epilepsy
functional studies
hypotonia
PIGT
splicing
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
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://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16006
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16006
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv LIPPINCOTT WILLIAMS & WILKINS
publisher.none.fl_str_mv LIPPINCOTT WILLIAMS & WILKINS
dc.source.none.fl_str_mv MEDICINE
ISSN: 00257974
ISSNe: 15365964
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
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