Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/2868 |
Resumo: | Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with atypical features. The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. At the last assessment, aged 12 years, head control, sitting and language were not acquired. Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia. A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents. We report a novel ADGRG1 variant associated with diffuse polymicrogyria without an identifiable anterior-posterior gradient, diffuse hypomyelination and a severe motor and cognitive phenotype. Our case highlights the phenotypic diversity of ADGRG1 pathogenic variants and the clinico-anatomical overlap between recognized polymicrogyria syndromes. |
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Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 VariantADGRG1GPR56bilateral frontoparietal polymicrogyriabilateral generalized polymicrogyriacase reportpolymicrogyriaPathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with atypical features. The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. At the last assessment, aged 12 years, head control, sitting and language were not acquired. Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia. A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents. We report a novel ADGRG1 variant associated with diffuse polymicrogyria without an identifiable anterior-posterior gradient, diffuse hypomyelination and a severe motor and cognitive phenotype. Our case highlights the phenotypic diversity of ADGRG1 pathogenic variants and the clinico-anatomical overlap between recognized polymicrogyria syndromes.This work was supported by Foundation of Health Research Institute of Santiago de Compostela, Spain.Frontiers Media SARepositório Científico do Centro Hospitalar Universitário de Santo AntónioCarneiro, FábioDuarte, JúliaLaranjeira, FranciscoBarbosa-Gouveia, SofiaCouce, María-LuzFonseca, Maria José2023-10-31T11:52:18Z2021-082021-08-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2868engCarneiro F, Duarte J, Laranjeira F, Barbosa-Gouveia S, Couce ML, Fonseca MJ. Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant. Front Pediatr. 2021;9:728077. doi:10.3389/fped.2021.7280772296-236010.3389/fped.2021.728077info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-02T05:59:42Zoai:repositorio.chporto.pt:10400.16/2868Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:26:28.403668Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant |
title |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant |
spellingShingle |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant Carneiro, Fábio ADGRG1 GPR56 bilateral frontoparietal polymicrogyria bilateral generalized polymicrogyria case report polymicrogyria |
title_short |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant |
title_full |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant |
title_fullStr |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant |
title_full_unstemmed |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant |
title_sort |
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant |
author |
Carneiro, Fábio |
author_facet |
Carneiro, Fábio Duarte, Júlia Laranjeira, Francisco Barbosa-Gouveia, Sofia Couce, María-Luz Fonseca, Maria José |
author_role |
author |
author2 |
Duarte, Júlia Laranjeira, Francisco Barbosa-Gouveia, Sofia Couce, María-Luz Fonseca, Maria José |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Carneiro, Fábio Duarte, Júlia Laranjeira, Francisco Barbosa-Gouveia, Sofia Couce, María-Luz Fonseca, Maria José |
dc.subject.por.fl_str_mv |
ADGRG1 GPR56 bilateral frontoparietal polymicrogyria bilateral generalized polymicrogyria case report polymicrogyria |
topic |
ADGRG1 GPR56 bilateral frontoparietal polymicrogyria bilateral generalized polymicrogyria case report polymicrogyria |
description |
Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with atypical features. The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. At the last assessment, aged 12 years, head control, sitting and language were not acquired. Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia. A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents. We report a novel ADGRG1 variant associated with diffuse polymicrogyria without an identifiable anterior-posterior gradient, diffuse hypomyelination and a severe motor and cognitive phenotype. Our case highlights the phenotypic diversity of ADGRG1 pathogenic variants and the clinico-anatomical overlap between recognized polymicrogyria syndromes. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-08 2021-08-01T00:00:00Z 2023-10-31T11:52:18Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.16/2868 |
url |
http://hdl.handle.net/10400.16/2868 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Carneiro F, Duarte J, Laranjeira F, Barbosa-Gouveia S, Couce ML, Fonseca MJ. Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant. Front Pediatr. 2021;9:728077. doi:10.3389/fped.2021.728077 2296-2360 10.3389/fped.2021.728077 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Frontiers Media SA |
publisher.none.fl_str_mv |
Frontiers Media SA |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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