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

Abnormalities, Multiple / genetics Cohort Studies Costello Syndrome / genetics Humans Hypoglycemia Phenotype Proto-Oncogene Proteins p21(ras) / genetics
Biomarker Costello syndrome Hypoglycemia Metabolism tracer Personalized medicine

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
Mar 2022
Historique:
received: 08 10 2021
revised: 13 12 2021
accepted: 22 01 2022
pubmed: 2 2 2022
medline: 5 4 2022
entrez: 1 2 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.ejmg.2022.104439 PMID: 35101635
pubmed: 35101635
pii: S1769-7212(22)00020-9
doi: 10.1016/j.ejmg.2022.104439
pii:
doi:

Substances chimiques

Proto-Oncogene Proteins p21(ras) EC 3.6.5.2

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

104439

Informations de copyright

Copyright © 2022 Elsevier Masson SAS. All rights reserved.

Auteurs

Chiara Leoni (C)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. Electronic address: chiara.leoni@policlinicogemelli.it.

Miriam Massese (M)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Jacopo Gervasoni (J)

Department of Laboratory and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Aniello Primiano (A)

Department of Laboratory and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Sacro Cuore, Rome, Italy.

Valentina Giorgio (V)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Roberta Onesimo (R)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Eliza Kuczynska (E)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Donato Rigante (D)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Sacro Cuore, Rome, Italy.

Silvia Persichilli (S)

Department of Laboratory and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Sacro Cuore, Rome, Italy.

Giovanna Carpentieri (G)

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.

Elisabetta Flex (E)

Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.

Roberta Pastorino (R)

Department of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Marco Tartaglia (M)

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Giuseppe Zampino (G)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Sacro Cuore, Rome, Italy.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Metabolic profiling of Costello syndrome:...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Metabolic profiling of Costello syndrome:...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndrome de Costello › Metabolic profiling of Costello syndrome:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Metabolic profiling of Costello syndrome:...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles du métabolisme du glucose › Hypoglycémie › Metabolic profiling of Costello syndrome:...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Metabolic profiling of Costello syndrome:...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Protéines proto-oncogènes p21(ras) › Metabolic profiling of Costello syndrome:...