At the annual meeting of the American Society for Human Genetics, scientists presented three new cases of Kabuki syndrome presented with developmental delay, autism and myopia as the common traits.
CAMK2B encodes calcium/calmodulin-dependent protein kinase type II subunit β, a kinase expressed in the brain that has an important role in synaptic plasticity. Genetic variations are associated with neurodevelopmental disorders.
Researchers from the University of Michigan and affiliated organizations presented data from a study that identified a link between a new neurodevelopmental disorder and biallelic variants in the EPB41L3 gene, which encodes band 4.1-like protein 3 that plays important roles in neuronal development, myelination and cytoskeletal organization.
IKZF2 encodes the critical zinc fingers 2 and 3, which are responsible for the DNA binding activity of Helios. Researchers from the University of British Columbia and affiliated organizations have identified new de novo dominant negative variants of the IKZF2 gene.
Researchers from Murdoch Children’s Research Institute presented data from a study that linked recessive variants in the SART3 gene with a novel neurodevelopmental syndrome.
Two large-scale studies provide new data on genes, inherited variations, and de novo mutations associated with autism spectrum disorder. Some of them are also associated with other neurological conditions, like developmental delay, or schizophrenia.
