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Article

Prader-Willi Syndrome and PCSK1 mutation: a novel presentation of combined syndromic and monogenic obesity.

European review for medical and pharmacological sciences - 1 Apr 2022

Kostopoulou E, Spilioti D X, Pantzaris N D, Spiliotis B E

Abstract excerpt

OBJECTIVE: Prader-Willi syndrome (PWS) is a genomic imprinting disorder predominantly caused by the absence of paternally expressed imprinted genes at chromosome 15q11.2-q13. The PCSK1 gene is vital for the processing of hypothalamic POMC to ACTH and α-MSH, leading to food intake suppression and increased energy expenditure. The aim of this study was to investigate whether our PWS patient had a defect in genes...

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PMID: 35442499
DOI: 10.26355/eurrev_202204_28478

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