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International Medical Case Reports Journal Volume 17, 2024 - Issue
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Case reports

c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome

Milena Barbosa Porto1 Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia, GO, BrazilORCID Iconhttps://orcid.org/0000-0002-4662-7218View further author information
ORCID Icon,
Geovanna da Mata e Castro1 Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia, GO, BrazilView further author information
,
Samara Socorro Silva Pereira2 Federal University of Goiás, Graduate Program in Genetics and Molecular Biology, Goiânia, GO, BrazilView further author information
,
Elza Maria Gonçalves Santos Uchoa2 Federal University of Goiás, Graduate Program in Genetics and Molecular Biology, Goiânia, GO, BrazilORCID Iconhttps://orcid.org/0000-0001-9388-2054View further author information
ORCID Icon,
Raffael Zatarin3 Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Secretary of Goiás, Goiânia, GO, BrazilView further author information
,
Lysa Bernardes Minasi1 Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia, GO, BrazilView further author information
&
Aparecido D da Cruz1 Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia, GO, Brazil;2 Federal University of Goiás, Graduate Program in Genetics and Molecular Biology, Goiânia, GO, Brazil;3 Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Secretary of Goiás, Goiânia, GO, BrazilCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-0753-3814View further author information
ORCID Icon show all
Pages 63-70 | Received 29 Nov 2023, Accepted 17 Jan 2024, Published online: 23 Jan 2024

References

  • Baker-Gordon Syndrome (BAGOS). An Online Catalog of Human Genes and Genetic Disorders (OMIM); 2018 [ updated December 29, 2021]. Available from: https://omim.org/entry/618218. Accessed October 6, 2023.
  • Melland H, Arvell EH, Gordon SL. Disorders of synaptic vesicle fusion machinery. J Neurochem. 2021;157(2):130–164. doi:10.1111/jnc.15181
  • Baker-Gordon Syndrome (BAGOS). MalaCards Human Disease Database; [ updated September 29, 2023]. Available from: https://www.malacards.org/card/baker_gordon_syndrome. Accessed October 6, 2023.
  • Baker K, Gordon SL, Grozeva D, et al. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J Clin Invest. 2015;125(4):1670–1678. doi:10.1172/JCI79765
  • Baker K, Gordon SL, Melland H, et al. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018;141(9):2576–2591. doi:10.1093/brain/awy209
  • Melland H, Bumbak F, Kolesnik-Taylor A, et al. Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. Genet Med. 2022;24(4):880–889. doi:10.1016/j.gim.2021.12.002
  • Riggs E, Shakkour Z, Anderson CL, Carney PR. SYT1-associated neurodevelopmental disorder: a narrative review. Children. 2022;9(10):1439–1449. doi:10.3390/children9101439
  • Bradberry MM, Courtney NA, Dominguez MJ, et al. Molecular basis for synaptotagmin-1-associated neurodevelopmental disorder. Neuron. 2020;107(1):52–54. doi:10.1016/j.neuron.2020.04.003
  • Paddock BE, Wang Z, Biela LM, et al. Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo. J Neurosci. 2011;31(6):2248–2257. doi:10.1523/jneurosci.3153-09.2011
  • Bello OD, Jouannot O, Chaudhuri A, et al. Synaptotagmin oligomerization is essential for calcium control of regulated exocytosis. Proc Natl Acad Sci USA. 2018;115(32):E7624–E7631. doi:10.1073/pnas.1808792115
  • Moutton S. L’approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de nouveaux gènes et nouveaux syndromes responsables d’anomalies du développement [The approach based on the genotype determined by first-line high-throughput sequencing and international data sharing to identify new genes and new syndromes responsible for developmental anomalies]. Médecine humaine et pathologie. Université Bourgogne Franche-Comté; 2019. Français. Français: https://theses.hal.science/tel-02477164. Accessed January 18, 2024.
  • Tagliatti E, Bello OD, Mendonça PRF, et al. Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release. Proc Natl Acad Sci USA. 2020;117(7):3819–3827. doi:10.1073/pnas.1920403117
  • Firth HV, Richards SM, Bevan AP, et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet. 2009;84(4):524–533. doi:10.1016/j.ajhg.2009.03.010

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