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MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brändle M, Guo M, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Klöppel G, Stein R, Korbonits M, Ellard S. Iacovazzo D, et al. Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi: 10.1073/pnas.1712262115. Epub 2018 Jan 16. Proc Natl Acad Sci U S A. 2018. PMID: 29339498 Free PMC article.
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M, Ryan AW, Herincs M, Hernández-Ramírez LC, Holland A, Samuels J, Aflorei ED, Barry S, Dénes J, Pernicova I, Stiles CE, Trivellin G, McCloskey R, Ajzensztejn M, Abid N, Akker SA, Mercado M, Cohen M, Thakker RV, Baldeweg S, Barkan A, Musat M, Levy M, Orme SM, Unterländer M, Burger J, Kumar AV, Ellard S, McPartlin J, McManus R, Linden GJ, Atkinson B, Balding DJ, Agha A, Thompson CJ, Hunter SJ, Thomas MG, Morrison PJ, Korbonits M. Radian S, et al. Hum Mutat. 2017 Jan;38(1):78-85. doi: 10.1002/humu.23121. Epub 2016 Oct 4. Hum Mutat. 2017. PMID: 27650164 Free PMC article.
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. Weedon MN, et al. Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. Nat Genet. 2013. PMID: 23770608 Free PMC article.