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Article

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

Journal of genetics - 1 Jan 2024

Cotrina-Vinagre Francisco Javier, Rodríguez-García María Elena, Pozo-Filíu Lucía Del, Quijada-Fraile Pilar, Martínez-Azorín Francisco

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39049490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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