Loss-of-function mutations in ADCY3 cause monogenic severe obesity
- Saeed, Sadia
- Bonnefond, Amélie
- Tamanini, Filippo
- Mirza, Muhammad Usman
- Manzoor, Jaida
- Janjua, Qasim M
- Din, Sadia M
- Gaitan, Julien
- Milochau, Alexandra
- Durand, Emmanuelle
- Vaillant, Emmanuel
- Haseeb, Attiya
- De Graeve, Franck
- Rabearivelo, Iandry
- Sand, Olivier
- Queniat, Gurvan
- Boutry, Raphaël
- Schott, Dina A
- Ayesha, Hina
- Ali, Muhammad
- Khan, Waqas I
- Butt, Taeed A
- Rinne, Tuula
- Stumpel, Connie
- Abderrahmani, Amar
- Lang, Jochen
- Arslan, Muhammad
- Froguel, Philippe
DOIAbstract
Study of monogenic forms of obesity has demonstrated the pivotal role of the central leptin-melanocortin pathway in controlling energy balance, appetite and body weight 1 . The majority of loss-of-function mutations (mostly recessive or co-dominant) have been identified in genes that are directly involved in leptin-melanocortin signaling. These genes, however, only explain obesity in <5% of cases, predominantly from outbred populations 2 . We previously showed that, in a consanguineous population in Pakistan, recessive mutations in known obesity-related genes explain ~30% of cases with severe obesity3-5. These data suggested that new monogenic forms of obesity could also be identified in this population. Here we identify and functionally ch...
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