Medicine:SYT1-associated neurodevelopmental disorder
| SYT1-associated neurodevelopmental disorder | |
|---|---|
| Other names | Baker-Gordon Syndrome |
| Specialty | Medical genetics, Neurology |
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]
Signs and symptoms
Patients present with neurodevelomental impairments and symptoms including:[1]
- Infantile hypotonia
- Congenital ophthalmic abnormalities
- Childhood onset hyperkinetic movement disorder
- Stereotypical motor behaviour
- Moderate to profound developmental delay or intellectual disability
- Sleep disturbance
- Episodic agitation
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.[citation needed]
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.[citation needed]
Management
At present, only supportive management of symptoms is available as there is no known curative treatment for this condition.[citation needed]
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] It was named after Sarah Gordon and Kate Baker, who first discovered and described it.[1]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 "SYT1-associated neurodevelopmental disorder: a case series". Brain 141 (9): 2576–2591. September 2018. doi:10.1093/brain/awy209. PMID 30107533.
- ↑ "Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling". The Journal of Clinical Investigation 125 (4): 1670–8. April 2015. doi:10.1172/JCI79765. PMID 25705886.
- ↑ "OMIM entry: Baker-Gordon Syndrome". https://www.omim.org/entry/618218?search=618218.
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