Two Caucasian families with the hepatocyte nuclear factor-1alpha mutation Tyr218Cys.
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.
Hummel
M
M
Diabetes Research Institute and Academical Hospital Munich-Schwabing, Munich, Germany. Michael.Hummel@lrz.uni-muenchen.de
Vasseur
F
F
Mathieu
C
C
Bellanne-Chantelot
C
C
Froguel
P
P
Standl
E
E
Füchtenbusch
M
M
D000293:Adolescent; D000328:Adult; D048909:Diabetes Complications / Q000235:genetics* / Q000378:metabolism; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000378:metabolism; D005190:Family; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D044465:White People
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha