Mutations in GATA6 should be strongly considered in cases of diabetes due to pancreatic hypoplasia or agenesis, and potentially affected family members should be tested regardless of phenotype.
Further screenings of GATA6 mutations in patients with various forms of diabetes and/or congenital heart disease with other visceral malformation may reveal the impact of GATA6 mutations on diabetes and congenital malformation.
In agreement with an increasing number of published cases, the wide phenotypic spectrum of GATA6diabetes syndrome should draw the attention of both pediatric endocrinologists and geneticists.