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Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria

by Perrotta, Silverio , Roberti, Domenico , Bencivenga, Debora , Murray, Andrew J , Fleck, Roland A , Sinisi, Antonio A , Corsetto, Paola , West, James A , Casale, Maddalena , O’Brien, Katie A , Allison, Leanne , Franzini-Armstrong, Clara , Caiazza, Martina , Rizzo, Angela M , Borriello, Adriana , Della Ragione, Fulvio , Robbins, Peter A , Griffin, Julian L , Formenti, Federico , Tartaglione, Immacolata , Scianguetta, Saverio , Stampone, Emanuela

in Age / Carbohydrate metabolism / Cardiac arrhythmia / Chromatography / Electron transport / Gene Expression / Genomes / Genotype & phenotype / Germ-Line Mutation / Growth - genetics / Growth Disorders - genetics / Growth hormones / Growth rate / Humans / Hypoglycemia / Hypoglycemia - genetics / Hypoxia / Hypoxia-Inducible Factor 1 - deficiency / Hypoxia-inducible factors / Laboratories / Lipid metabolism / Male / Metabolism / Metabolites / Metabolome - genetics / Metabolome - physiology / Mitochondria / Mitochondria - metabolism / Mutation / Oxygen consumption / Phenotypes / Phlebotomy / Polycythemia / Proteins / Syndrome / Tumor suppressor genes / Tumors / VHL protein / Von Hippel-Lindau Tumor Suppressor Protein - genetics / Young Adult

2020

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Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria

2020

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2020

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Journal Article

Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria

Perrotta, Silverio,

Roberti, Domenico,

Bencivenga, Debora,

Murray, Andrew J,

Fleck, Roland A,

Sinisi, Antonio A,

Corsetto, Paola,

West, James A,

Casale, Maddalena,

O’Brien, Katie A,

Allison, Leanne,

Franzini-Armstrong, Clara,

Caiazza, Martina,

Rizzo, Angela M,

Borriello, Adriana,

Della Ragione, Fulvio,

Robbins, Peter A,

Griffin, Julian L,

Formenti, Federico,

Tartaglione, Immacolata,

Scianguetta, Saverio,

Stampone, Emanuela

2020

Overview

A young man with polycythemia, reduced growth rate, persistent hypoglycemia, and mitochondrial defects first appearing at birth was found to have a synonymous homozygous mutation in VHL (c.222C→A) that created a cryptic splice site leading to the production of a truncated VHL protein.

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Publisher

Massachusetts Medical Society

Subject

Age

/ Carbohydrate metabolism

/ Genomes