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.
Inborn errors of immunity comprise a group of several diseases, the most severe of which are immunodeficiency disorders. The latter are characterized by defective T-cell functioning leading to impaired immunity.
Researchers from the University of Lausanne and affiliated organizations recently presented data from a study that aimed to identify novel candidate causative genes of visual impairment.
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.
Grace Science LLC has received FDA clearance of its IND application for GS-100, an AAV9 gene replacement therapy for the treatment of NGLY1 deficiency.
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.
At the recent American Society of Human Genetics meeting, researchers from Stanford University reported clinical and functional evidence of the involvement of ARHGAP1, a Rho GTPase-activating protein (GAP) gene, in a patient exhibiting a syndromic neurodevelopmental disorder.
The DDX39B gene belongs to the DExD/H-box family of ATP-dependent RNA helicases, playing a vital role in mRNA processing. DDX39B is a component of the TRanscription-EXport (TREX) protein complex, whose pathogenic variants have been recently associated with neurodevelopmental and neurodegenerative disorders.
Previous studies have identified a homozygous CDK9 variant in five different families (four Arabic and one Japanese) with CHARGE syndrome, suggesting that CDK9 could be a causative gene in autosomal recessive CHARGE-like syndrome. Researchers from the University of Kuwait and affiliated organizations thus aimed to further investigate this disease-gene association.
It is well known that mutations in the cystic fibrosis transmembrane regulator (CFTR) gene are causative of cystic fibrosis, a lethal autosomal recessive Mendelian disorder. Several studies have also pointed to an association between CFTR mutations and inflammatory bowel disease (IBD).
RSS
