Publications by authors named "Carl J Haugen"
Article Synopsis
- * A systematic review identified 36 new pathogenic and 10 likely pathogenic variants through measuring esterase activity, creating a reliable method for classifying variants related to PNPLA6.
- * The study revealed a significant link between NTE activity levels and the presence of specific symptoms like retinopathy and endocrinopathy, supporting the idea that PNPLA6 disorders are a spectrum of related phenotypes based on NTE genotype and activity, setting the stage for future therapies.
Article Synopsis
- Biallelic pathogenic variants in the NTE gene are linked to various disorders that cause issues like gait disturbance, visual impairment, and hormonal problems such as anterior hypopituitarism.
- A clinical meta-analysis of new and previously reported patients identifies specific missense variants as significant contributors to disease pathogenesis, with a developed functional assay helping to classify variants of unknown significance.
- Findings show a clear connection between reduced NTE activity and the occurrence of certain conditions (retinopathy and endocrinopathy), suggesting a continuous spectrum of disorders based on NTE functionality, which may guide future therapeutic strategies.
