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

COTRINA-VINAGRE, FRANCISCO JAVIERRODRI ?GUEZ-GARCI ?A, MARI ?A ELENAPOZO-FILI ?U, LUCI ?A DELQUIJADA-FRAILE, PILARMARTI ?NEZ-AZORI ?N, FRANCISCO2024-11-302024-11-302024-07COTRINA-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: 1-70022-13330973-7731https://imsear.searo.who.int/handle/123456789/238665We 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.whole-exome sequencingSYT1neurodevelopmental disorderhypotoniarod–cone dysfunctionBaker–Gordon syndromeExpanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variantJournal ArticleIndiaGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigacio ?n Hospital, 12 de Octubre (i?12), Madrid, SpainGrupo 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, SpainGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigacio ?n Hospital, 12 de Octubre (i?12), Madrid, SpainUnidad Pedia ?trica de Enfermedades Raras, Enfermedades Mitocondriales y Metabo ?licas Hereditarias, Hospital 12 de Octubre, Madrid, SpainGrupo 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, Spain