Two Caucasian Families with the Hepatocyte Nuclear Factor-1Alpha Mutation Tyr218Cys

Abstract

We report on the first two Caucasian families with the MODY3 HNF-1alpha mutation Tyr218Cys. Clinical and laboratory examinations are shown in detail. Patients with HNF-1alpha related MODY may develop the full spectrum of diabetic complications. Therefore, early detection of family members with MODY3 is warranted.

Key words

MODY3 - diabetes - hepatocyte nuclear factor-1alpha

References

• 1 Bingley PJ, Bonifacio E, Mueller PW. Diabetes Antibody Standardization Program: first assay proficiency evaluation.  Diabetes. 2003;  52 1128-1136
• 2 Boutin P, Wahl C, Samson C, Vasseur F, Laget F, Froguel P. Big Dye terminator cycle sequencing chemistry: accuracy of the dilution process and application for screening mutations in the TCF1 and GCK genes.  Hum Mutat. 2000;  15 201-203
• 3 Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical phatophysiology of maturity-onset diabetes of the young.  NEJM. 2001;  345 971-980
• 4 Isomaa B, Henricsson M, Lehto M, Forsblom C, Karanko S, Sarelin L, Häggblom M, Groop L. Chronic diabetic complications in patients with MODY3 diabetes.  Diabetologia. 1998;  41 467-473
• 5 Jap TS, Wu YC, Chiou JY, Kwok CF. A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan.  Diabetic Medicine. 2000;  17 390-393
• 6 Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M. et al . Mutations in the hepatocyte nuclear factor -1α gene in maturity-onset diabetes of the young (MODY3).  Nature. 1996;  384 458-460

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