Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant

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dc.contributor.authorCOTRINA-VINAGRE, FRANCISCO JAVIERen_US
dc.contributor.authorRODRI ?GUEZ-GARCI ?A, MARI ?A ELENAen_US
dc.contributor.authorPOZO-FILI ?U, LUCI ?A DELen_US
dc.contributor.authorQUIJADA-FRAILE, PILARen_US
dc.contributor.authorMARTI ?NEZ-AZORI ?N, FRANCISCOen_US
dc.date.accessioned2024-11-30T12:02:45Z
dc.date.available2024-11-30T12:02:45Z
dc.date.issued2024-07
dc.description.abstractWe report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual problems, and hyperkinetic movements. Whole-exome sequencing uncovered a new heterozygous de novo Synaptotagmin 1 (SYT1) missense variant, NM_005639.3:c.930T[A (p.Asp310Glu), in a female proband. This gene encodes the synaptotagmin-1 (SYT1) protein, which is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. Pathogenic SYT1 variants have been associated with Baker–Gordon syndrome (BAGOS), an autosomal dominant neurodevelopmental disorder. Although up to 30 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with mitochondrial respiratory chain deficiencies and rod–cone dysfunction. In conclusion, our data expand both the genetic and phenotypic spectrum associated with SYT1 variants.en_US
dc.identifier.affiliationsGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigacio ?n Hospital, 12 de Octubre (i?12), Madrid, Spainen_US
dc.identifier.affiliationsGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigacio ?n Hospital, 12 de Octubre (i?12), Madrid, Spain; Centro de Investigacio ?n Biome ?dica en Red de Enfermedades Raras (CIBERER)-ISCIII, Madrid, Spainen_US
dc.identifier.affiliationsGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigacio ?n Hospital, 12 de Octubre (i?12), Madrid, Spainen_US
dc.identifier.affiliationsUnidad Pedia ?trica de Enfermedades Raras, Enfermedades Mitocondriales y Metabo ?licas Hereditarias, Hospital 12 de Octubre, Madrid, Spainen_US
dc.identifier.affiliationsGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigacio ?n Hospital, 12 de Octubre (i?12), Madrid, Spain; Centro de Investigacio ?n Biome ?dica en Red de Enfermedades Raras (CIBERER)-ISCIII, Madrid, Spainen_US
dc.identifier.citationCOTRINA-VINAGRE FRANCISCO JAVIER, RODRI ?GUEZ-GARCI ?A MARI ?A ELENA, POZO-FILI ?U LUCI ?A DEL, QUIJADA-FRAILE PILAR, MARTI ?NEZ-AZORI ?N FRANCISCO . Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant. Journal of Genetics . 2024 Jul; 103: 1-7en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/238665
dc.languageenen_US
dc.publisherThe Indian Academy of Sciencesen_US
dc.relation.volume103en_US
dc.source.urihttps://doi.org/10.1007/s12041-024-01476-8en_US
dc.subjectwhole-exome sequencingen_US
dc.subjectSYT1en_US
dc.subjectneurodevelopmental disorderen_US
dc.subjecthypotoniaen_US
dc.subjectrod–cone dysfunctionen_US
dc.subjectBaker–Gordon syndromeen_US
dc.titleExpanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 varianten_US
dc.typeJournal Articleen_US
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