Background: The adenylate cyclase 3 (ADCY3) gene encodes a membrane-associated protein involved in the formation of cyclic adenosine monophosphate (cAMP) from adenosine triphosphate (ATP). This gene seems to be is involved in the regulation of several metabolic processes and has been recently associated to pathophysiological metabolic conditions. Several ADCY3 variants have been linked with obesity in children.
Methods: 33 children of Cypriot origin diagnosed with obesity or severe obesity were analysed by Sanger sequencing for defects in the ADCY3 gene and its proximal intronic regions.
Results: Eight previously reported variants (6 synonymous and 2 missense) and one novel missense variant have been identified in the ADCY3 gene. The novel variant p.Leu117Met has not been previously reported in patients with obesity and was identified in two patients. Additionally, 5 previously reported variants and 1 novel variant have been detected in the intronic region of ADCY3.
Conclusions: Thirteen previously reported and 2 novel variants have been identified in our study. Our results confirm the presence of ADCY3 variants among Cypriot children diagnosed with obesity and therefore provide evidence of a possible link with the susceptibility of the disorder. Functional studies of variant p.Leu117Met will further elucidate its role in the pathophysiology of the disorder.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology