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Exp Clin Endocrinol Diabetes 2007; 115(1): 62-64
DOI: 10.1055/s-2007-955099
Case Report

© J. A. Barth Verlag in Georg Thieme Verlag KG · Stuttgart · New York

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

M. Hummel 1 , F. Vasseur 2 , 3 , C. Mathieu 4 , C. Bellanne-Chantelot 5 , P. Froguel 2 , 6 , E. Standl 1 , M. Füchtenbusch 1
  • 1Diabetes Research Institute & Academical Hospital Munich-Schwabing, Munich, Germany
  • 2Institut de Biologie de Lille, 1, Lille, France
  • 3Medical School and University Hospital, Lille, France
  • 4Department of Endocrinology, UZ Gasthuisberg, Katholieke Universiteit Leuven, Belgium
  • 5AP-HP Saint Antoine, Department of Cytogenetics, Paris, France & Universite Pierre et Marie Curie-Paris6, Paris, France
  • 6Section of Genomic Medicine, Hammersmith Campus, Imperial College, London, U.K
Further Information

Publication History

Received 10.05.2006 First decision 21.07.2006

Accepted 29.08.2006

Publication Date:
07 February 2007 (online)

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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

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Correspondence

M. Hummel

Diabetes Research Institue & Academical Hospital Munich-Schwabing

Koelner Platz 1

80804 Munich

Germany

Phone: +49/89/307 93 114

Fax: +49/89/308 17 33

Email: Michael.Hummel@lrz.uni-muenchen.de

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