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Article

A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.

The Journal of clinical endocrinology and metabolism - 18 Aug 2022

Viakhireva Iuliia, Kalinchenko Natalia, Vasilyev Evgeny, Chistousova Galina V, Filatova Alexandra, Marakhonov Andrey, Rubtsov Petr M, Skoblov Mikhail, Tiulpakov Anatoly

Abstract excerpt

CONTEXT: The syndrome of adrenal insufficiency, obesity, and red hair is a rare autosomal recessive disorder. The majority of disease-causing variants associated with the syndrome are located in the coding region of the POMC gene. OBJECTIVE: This work describes 7 unrelated patients who shared a novel homozygous mutation in the 5'-untranslated region (UTR) of the POMC gene and functionally characterize this novel...

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PMID: 35775692
DOI: 10.1210/clinem/dgac397

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