Dominant gain-of-function disease-causing variants in the MAFA gene cause insulinomatosis or diabetes mellitus. Individuals may also be affected with congenital cataracts and/or glaucoma.
Key References
- 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. MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi:10.1073/pnas.1712262115. Epub 2018 Jan 16. PMID:29339498; PMCID:PMC5798333.