Costello 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.

Leoni, C., Massese, M., Gervasoni, J., Primiano, A., Giorgio, V., Onesimo, R., Kuczynska, E., Rigante, D., Persichilli, S., Carpentieri, G., Flex, E., Pastorino, R., Tartaglia, M., Zampino, G., Metabolic profiling of Costello syndrome: insights from a single-center cohort, <<EUROPEAN JOURNAL OF MEDICAL GENETICS>>, 2022; 2022 (65(3):104439): 1-5. [doi:10.1016/j.ejmg.2022.104439] [http://hdl.handle.net/10807/194833]

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

Leoni, C
;
Massese, M;Gervasoni, J;Primiano, A;Giorgio, V;Onesimo, R;Rigante, D;Persichilli, S;Pastorino, R;Zampino, G
2022

Abstract

Costello 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.
Inglese
Leoni, C., Massese, M., Gervasoni, J., Primiano, A., Giorgio, V., Onesimo, R., Kuczynska, E., Rigante, D., Persichilli, S., Carpentieri, G., Flex, E., Pastorino, R., Tartaglia, M., Zampino, G., Metabolic profiling of Costello syndrome: insights from a single-center cohort, <<EUROPEAN JOURNAL OF MEDICAL GENETICS>>, 2022; 2022 (65(3):104439): 1-5. [doi:10.1016/j.ejmg.2022.104439] [http://hdl.handle.net/10807/194833]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/194833
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