Publications by authors named "Giusi M Scaturro"
Background: Lipoprotein(a) [Lp(a)] level variability, related to atherothrombotic risk increase, is mainly attributed to LPA gene, encoding apolipoprotein(a), with kringle IV type 2 (KIV2) copy number variation (CNV) acting as the primary genetic determinant. Genetic characterization of Lp(a) is in continuous growth; nevertheless, the peculiar structural characteristics of this variant constitute a significant challenge to the development of effective detection methods. The aim of the study was to compare quantitative real-time PCR (qPCR) and digital droplet PCR (ddPCR) in the evaluation of KIV2 repeat polymorphism.
View Article and Find Full Text PDFBackground: DNAJC12 co-chaperone protein deficiency has been recently described as a stand-alone metabolic disorder explaining many cases of mild hyperphenylalaninemia (HPA) that are not caused by variants in the gene, which encodes for the hepatic enzyme phenylalanine hydroxylase (PAH), or in and involved in tetrahydrobiopterin (BH4) biosynthesis and activity.
Results: We describe two sisters born to consanguineous parents. The youngest sister (Patient 1), initially asymptomatic, tested positive at NewBorn Screening (NBS) for mild HPA.
Article Synopsis
- - CHD2 is a gene that encodes a protein involved in DNA and chromatin remodeling, and its pathogenic variants can lead to various neurodevelopmental issues, including epilepsy and developmental delays.
- - The study reviewed a total of 102 patients, identifying both known and novel variants, and highlighted a new case of adult-onset epilepsy linked to a specific CHD2 variant.
- - Most patients (about 72.5%) had truncating variants, with epilepsy occurring in 92% of cases, generally beginning around age 2. However, a clear link between specific genetic variations and health outcomes has not been established.