A postzygotic variant in FGFR2 has been identified as the cause of a mosaic neurocutaneous disorder. Researchers at the Institute of Human Genetics Göttingen uncovered the variant as the [...]
Identification of biallelic variants in the CCR2 gene and subsequent functional investigations revealed a previously undescribed mechanism leading to a complex and progressive lung disease. An [...]
Patients diagnosed with hearing loss due to variants in the otoferlin gene, or OTOF, can now participate in a specific registry at the University Medical Center Göttingen (UMG). The registry, [...]
Based on the identification of pathogenic de novo missense variants of U2AF2 in patients with neurodevelopmental disorders (NDDs), an international team of researchers gained novel insights into [...]
Using a novel filtering approach in the analysis of whole-genome sequencing data, researchers identified ultra-rare disease-associated variants in the SMAD4 gene. In their study published in the [...]
Somatic mutations in SLC30A1 cause disruptions in cellular zinc homeostasis leading to primary aldosteronism. This is reported by the authors of a study recently published in Nature Genetics. [...]
Congenital rare skeletal disorders are conditions that affect the development and growth of bone and cartilage tissue. In most cases they are genetic in nature. They manifest either as skeletal [...]
Homozygous truncating variants in AXIN1 underlie a previously undescribed specific skeletal disorder with a pathological increase in bone tissue and hip dysplasia. The authors of a study [...]
RHINO, the protein encoded by the RHNO1 gene, has a previously unknown function in repairing DNA damage. A study recently published in Science demonstrates that RHINO plays a crucial role in a [...]
Biallelic missense variants found in the ERI1 gene result in disrupted ribosome biogenesis, causing a specific and previously unreported type of bone and cartilage disorder. This discovery was [...]
