Ling Zhang

A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome

Baker-Gordon syndrome (BGS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in SYT1, which encodes synaptotagmin-1, a key Ca2⁺ sensor for synaptic vesicle exocytosis. We describe a 13-month-old Chinese boy who presented with global developmental delay, axial hypotonia...