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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
At present, only supportive management of symptoms is available as there is no known curative treatment for this condition.[citation needed]
History[edit]
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[edit]
- ^ a b c d e 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.
- ^ 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.
- ^ "OMIM entry: Baker-Gordon Syndrome".