Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

Objective When diabetes is associated with congenital malformations, without autoimmune antibodies, a genetic cause is suspected. Here, we aimed to identify a defective gene that led to diabetes. Research Design and Methods We performed an exome analysis of an index case and his healthy parents. Results The child presented with childhood-onset diabetes, congenital hypopituitarism, cardiac malformation, and anal atresia. A DNA analysis revealed a...