ESPE Abstracts (2019) 92 P1-334

1Department of Molecular Genetics Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. 2School of Medicine, University of Milan, Milan, Italy. 3Cyprus School of Molecular Medicine, Nicosia, Cyprus. 4Division of Paediatric Endocrinology, Paedi Center for specialized Paediatrics, Nicosia, Cyprus. 5St George's, University of London Medical School at the University of Nicosia, Nicosia, Cyprus. 6Pediatric Endocrine Unit, Archbishop Makarios III Hospital, Nicosia, Cyprus. 7Clinical Genetics department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. 8Pediatric Endocrine Clinic, IASIS Hospital, Paphos, Cyprus. 9Department of Pharmacy, Frederick University, Nicosia, Cyprus

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.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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