hrp0097p1-262 | Fat, Metabolism and Obesity | ESPE2023

16p11.2 microdeletion: a common copy number variation (CNV) identified in a Portuguese pediatric cohort with syndromic obesity.

Rosmaninho-Salgado Joana , B. Sousa Sergio , M. Pires Luis , Ferreira Susana , B. Melo Joana , M. Carreira Isabel , M. Saraiva Jorge

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...

hrp0097p1-270 | Fat, Metabolism and Obesity | ESPE2023

MC4R deficiency in a portuguese pediatric cohort study

C Mendes Ariana , Pereira Janet , Mirante Alice , M Saraiva Jorge , R. Soares Ana , B. Sousa Sérgio , Rosmaninho-Salgado Joana

Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...