Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY

- Thirty-two Brazilian families with MODY phenotype have been studied.
- Mutations in HNF1A and glucokinase (GCK) have been assessed.
- Eight families had GCK mutations.
- Three of the GCK mutations were not previously described: p.Asp365Asn, p.Gly81Asp, and p.Val253Leu.
- Two families had previously described HNF1A mutations.

Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families.