SYT1-associated neurodevelopmental disorder

SYT1-associated neurodevelopmental disorder, also known as Baker-Gordon Syndrome, is a rare genetic disorder caused by mutations in the synaptotagmin-1 (SYT1) gene.[1]

SYT1-associated neurodevelopmental disorder
Other namesBaker-Gordon Syndrome
SpecialtyMedical genetics, Neurology

Signs and symptoms

Patients present with neurodevelomental impairments and symptoms including:

Epileptic seizures are not a feature of this disorder (despite abnormal EEG) and head circumference is typically normal.

Genetics

This condition is caused by heterozygous mutations in the SYT1 gene, located on the long arm of chromosome 12 (12q21.2), which are inherited in an autosomal dominant fashion.

Pathogenesis

Synaptotagmin-1 is a predominantly presynaptic Ca2+-sensor involved in synaptic vesicle exocytosis and endocytosis. In SYT1-associated neurodevelopmental disorder, mutations disrupt synaptotagmin-1 function causing a reduction in neurotransmitter release.[1]

Diagnosis

This disorder may be suspected on the basis of the clinical features listed above and abnormal EEG recording. Diagnosis is made through genetic testing with sequencing of the SYT1 gene.

Management

At present, only supportive management of symptoms is available as there is no known curative treatment for this condition.

History

The first case of SYT1-associated neurodevelopmental disorder was described in 2015[2] and it was classified as a syndrome in 2018.[1][3]

References

  1. Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, et al. (September 2018). "SYT1-associated neurodevelopmental disorder: a case series". Brain. 141 (9): 2576–2591. doi:10.1093/brain/awy209. PMC 6113648. PMID 30107533.
  2. Baker K, Gordon SL, Grozeva D, van Kogelenberg M, Roberts NY, Pike M, et al. (April 2015). "Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling". The Journal of Clinical Investigation. 125 (4): 1670–8. doi:10.1172/JCI79765. PMC 4396464. PMID 25705886.
  3. "OMIM entry: Baker-Gordon Syndrome".
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