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

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

doi:10.1016/j.ejmg.2022.104439

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

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

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo in rivista

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.

Lingua originale	English
pagine (da-a)	1-5
Numero di pagine	5
Rivista	European Journal of Medical Genetics
Volume	65
DOI	https://doi.org/10.1016/j.ejmg.2022.104439
Stato di pubblicazione	Pubblicato - 2022

Keywords

RASopathies

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10.1016/j.ejmg.2022.104439

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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. (2022). Metabolic profiling of Costello syndrome: insights from a single-center cohort. European Journal of Medical Genetics, 65, 1-5. https://doi.org/10.1016/j.ejmg.2022.104439

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title = "Metabolic profiling of Costello syndrome: insights from a single-center cohort",

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.",

keywords = "RASopathies, RASopathies",

author = "Chiara Leoni and Miriam Massese and Jacopo Gervasoni and Aniello Primiano and Valentina Giorgio and Roberta Onesimo and Eliza Kuczynska and Donato Rigante and Silvia Persichilli and Giovanna Carpentieri and Elisabetta Flex and Roberta Pastorino and Marco Tartaglia and Giuseppe Zampino",

year = "2022",

doi = "10.1016/j.ejmg.2022.104439",

language = "English",

volume = "65",

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T1 - Metabolic profiling of Costello syndrome: insights from a single-center cohort

AU - Leoni, Chiara

AU - Massese, Miriam

AU - Gervasoni, Jacopo

AU - Primiano, Aniello

AU - Giorgio, Valentina

AU - Onesimo, Roberta

AU - Kuczynska, Eliza

AU - Rigante, Donato

AU - Persichilli, Silvia

AU - Carpentieri, Giovanna

AU - Flex, Elisabetta

AU - Pastorino, Roberta

AU - Tartaglia, Marco

AU - Zampino, Giuseppe

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - RASopathies

UR - http://hdl.handle.net/10807/194833

U2 - 10.1016/j.ejmg.2022.104439

DO - 10.1016/j.ejmg.2022.104439

M3 - Article

SN - 1769-7212

VL - 65

SP - 1

EP - 5

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

ER -

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

Abstract

Keywords

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