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Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

2021-08Journal article Open access
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dc.contributor.authorCarneiro, Fábio
dc.contributor.authorDuarte, Júlia
dc.contributor.authorLaranjeira, Francisco
dc.contributor.authorBarbosa-Gouveia, Sofia
dc.contributor.authorCouce, María-Luz
dc.contributor.authorFonseca, Maria José
dc.date.accessioned2023-10-31T11:52:18Z
dc.date.available2023-10-31T11:52:18Z
dc.date.issued2021-08
dc.description.abstractPathogenic 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.pt_PT
dc.description.sponsorshipThis work was supported by Foundation of Health Research Institute of Santiago de Compostela, Spain.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCarneiro 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.2021.728077pt_PT
dc.identifier.doi10.3389/fped.2021.728077pt_PT
dc.identifier.issn2296-2360
dc.identifier.urihttp://hdl.handle.net/10400.16/2868
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Media SApt_PT
dc.relation.publisherversionhttps://www.frontiersin.org/articles/10.3389/fped.2021.728077/fullpt_PT
dc.subjectADGRG1pt_PT
dc.subjectGPR56pt_PT
dc.subjectbilateral frontoparietal polymicrogyriapt_PT
dc.subjectbilateral generalized polymicrogyriapt_PT
dc.subjectcase reportpt_PT
dc.subjectpolymicrogyriapt_PT
dc.titleCase Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variantpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.startPage728077pt_PT
oaire.citation.titleFrontiers in Pediatricspt_PT
oaire.citation.volume9pt_PT
person.familyNameLaranjeira
person.givenNameFrancisco
person.identifier828502
person.identifier.ciencia-idDE14-F0E8-1401
person.identifier.orcid0000-0002-5043-8997
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication49278350-b459-46e3-9c7e-fc9ad765fe5d
relation.isAuthorOfPublication.latestForDiscovery49278350-b459-46e3-9c7e-fc9ad765fe5d

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