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Start Over Author "Bizzarri C" Region rome (italy)
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1. Lack of red hair phenotype in a North-African obese child homozygous for a novel POMC null mutation: nonsense-mediated decay RNA evaluation and hair pigment chemical analysis.

Author

Cirillo, G., Marini, R., Ito, S., Wakamatsu, K., Scianguetta, S., Bizzarri, C., Romano, A., Grandone, A., Perrone, L., Cappa, M., and Miraglia del Giudice, E.

Subjects
CASE studies, RISK of childhood obesity, GENETIC code
Abstract

The article presents a case study of a 3-year-old boy who was admitted at Ospedale Bambino Gesu Hospital in Rome, Italy due to hypocortisolism and early-onset severe obesity. The patient had a history of hypoglycaemia days after his birth. Results from sequencing analysis of the patient revealed a homozygous single substitution C20CT, indicating a presence of a stop codon Gln68X. The case illustrates the combined effect of hair pigmentation of the Agouti inverse agonism.

Published
2012
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