Two rare mutations, rs869320673 (Leu552Ter) and rs796065047 (Asp94Asn), in the APPL1 gene have been identified through whole-exome sequencing in two of 60 large families with high prevalence of diabetes not due to mutations in known MODY-associated genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) [4]. The gene discussed is APPL1; the disease is diabetes mellitus.