Metabolic profiling of Costello syndrome: Insights from a single-center cohort

Eur J Med Genet. 2022 Jan 29;65(3):104439. doi: 10.1016/j.ejmg.2022.104439. Online ahead of print.ABSTRACTCostello syndrome (CS) is a rare disorder caused by activating dominantly acting germline variants in the HRAS gene. CS is defined by a clinical phenotype characterized by a distinctive gestalt, multiple congenital anomalies, and increased risk to develop tumors. Hypoglycemia and hypercholesterolemia have been reported to occur in affected individuals, but the underlying molecular events remain to be characterized. Here, we provided data on glucose/lipid metabolism and amino acid profile of a large single-center cohort of individuals affected by CS to systematically assess the extent of metabolic dysregulation characterizing this disorder and optimize patient management.PMID:35101635 | DOI:10.1016/j.ejmg.2022.104439

Source: European Journal of Medical Genetics - February 1, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Miriam Massese Jacopo Gervasoni Aniello Primiano Valentina Giorgio Roberta Onesimo Eliza Kuczynska Donato Rigante Silvia Persichilli Giovanna Carpentieri Elisabetta Flex Roberta Pastorino Marco Tartaglia Giuseppe Zampino Source Type: research