Atrial septal defect (ASD) is a congenital heart condition where the formation of the connection between the atrial chambers is defective, thus allowing left-to-right shunting and the consequent risk of atrial fibrillation, stroke and heart failure, among others.

It is known that >70% of the genes involved in pathogenic hearing loss are involved in autosomal recessive nonsyndromic hearing loss (ARNSHL), which accounts for 1 case for every 166 individuals in Iran due to the high rate of consanguineous marriage in the country.

Genetic variants in core-spliceosome components are tied to a variety of aberrant splicing-driven inherited disorders. CWF19-like protein 2 (CWF19L2) is such a key component located in the spliceosome complex in charge of maturing pre-RNA. No disease-phenotype has been established for CWF19L2.

Researchers from Charité University Hospital Berlin and affiliated organizations presented data from a study that linked variants in ANO4 to different types of epilepsy.

Hepatocellular carcinoma (HCC) still accounts for a high mortality rate and poor prediction of outcomes and survival.

University of Basel investigators have reported an association between mutations in the COQ8B gene and nonsyndromic retinitis pigmentosa (RP). RP is a genetically heterogeneous retinal degeneration disorder, which has been found to be associated with mutations in more than 70 genes. However, there are still cases for which no genetic cause has been found.

Researchers from Landeskrankenhaus Salzburg (SALK) - Universitätsklinikum der PMU have identified a novel loss-of-function variant in the NDUFA7 gene in a patient with Leber’s hereditary optic neuropathy (LHON).

One in every 500 newborns worldwide are affected by nonsyndromic hearing loss (NSHL). Whole-exome sequencing may help in identifying the genetic cause of NSHL.