Novel Deletion Mutation in the Glucokinase Gene from a Korean Man with GCK-MODY Phenotype and Situs Inversus.

A novel mutation in intron 9–exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes.