Two Caucasian families with the hepatocyte nuclear factor-1 alpha mutation Tyr218Cys
Hummel, M × Vasseur, F Mathieu, Chantal Bellanne-Chantelot, C Froguel, P Standl, E Fuechtenbusch, M #
Experimental and Clinical Endocrinology & Diabetes vol:115 issue:1 pages:62-64
We report on the first two Caucasian families with the MODY3 HNF-1alpha mutation Tyr-218Cys. Clinical and laboratory examinations are shown in detail. Patients with HNF-1 alpha related MODY may develop the full spectrum of diabetic complications. Therefore, early detection of family members with MODY3 is warranted.