Research from Exeter in collaboration with Queen Mary University (London) and Vanderbilt University (Tennessee, USA) has identified a novel missense variant in multiple members of two unrelated families associated with two distinct phenotypes. The missense variant, in the gene MAFA (which has previously not been associated a disease), has been found in individuals that have diabetes or insulinomatosis (hyperinsulinemic hypoglycemia). Exome or targeted sequencing of 55 individuals (from two unrelated families plus 9 cases of sporadic insulinomatosis) was carried out for this study. Further work is ongoing to understand the mechanisms behind this gene and the observed phenotypes. An article published on GenomeWeb has highlighted this work, published in the journal Proceedings of the National Academy of Sciences of the United States of America (PNAS). A publication pre-print is available here.
