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

• Published in: Journal of genetics Vol. 103; no. 2; p. 24
• Main Authors: Cotrina-Vinagre, Francisco Javier, Rodríguez-García, María Elena, Del Pozo-Filíu, Lucía, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 05.07.2024; Springer Nature B.V
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Child; Child, Preschool; Developmental Disabilities - genetics; Developmental Disabilities - pathology; Electron transport; electron transport chain; Evolutionary Biology; Exome Sequencing; Female; females; Fusion protein; genes; Hereditary diseases; heterozygosity; Humans; Life Sciences; Membrane fusion; Membrane proteins; Membrane vesicles; Microbial Genetics and Genomics; mitochondria; Mutation, Missense; Neurodevelopmental disorders; patients; Pediatrics; Phenotype; Plant Genetics and Genomics; Research Article; Synaptic vesicles; Synaptotagmin; Synaptotagmin I - genetics; Vesicle fusion; Whole genome sequencing; neurodevelopmental disorder; whole-exome sequencing; Baker–Gordon syndrome; hypotonia; rod–cone dysfunction
• ISSN: 0973-7731; 0022-1333; 0973-7731
• DOI: 10.1007/s12041-024-01476-8

We 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.