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.
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).
Polycystic ovary syndrome (PCOS) is a form of anovulatory infertility characterized by hyperandrogenemia, irregular menses and polycystic ovarian morphology. Apart from experiencing reproductive-related symptoms, women with PCOS face an increased risk of obesity, insulin resistance and type 2 diabetes.
Researchers from Università degli Studi di Foggia presented data from a study that aimed to investigate different circulating microRNAs (miRNAs) as possible biomarkers for the diagnosis and prognosis of multiple sclerosis (MS).
African Americans are 10 times more likely to develop chronic kidney disease (CKD) than Americans of European descent in part due to inheritance of one of two high-risk (HR) APOL1 variants (G1/G2, not G0) that are only present in people of West African or Caribbean ancestry. By contrast, these two APOL1 HR variants confer a beneficial resistance to otherwise lethal trypanosomiasis, which is caused by a pathogen endemic to West Africa, but still this ultimately results in a 4-fold increased risk for end-stage kidney disease (ESKD).