Document Detail


A novel nonsense mutation in GCK exon 9 co-segregates with diabetes phenotype.
MedLine Citation:
PMID:  15216446     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Maturity-onset diabetes of the young is an autosomal dominant form of non-insulin dependent diabetes mellitus and is caused by mutations in at least six different genes. In the most common forms, i.e. MODY2 and MODY3, the glucokinase (GCK) and the hepatocyte nuclear factor (HNF)-1alpha gene is affected, respectively. We have screened the GCK gene and HNF-1alpha gene by direct sequencing in three German families with early onset type-2-diabetes, possibly MODY. Next to known polymorphisms we have identified two novel intronic insertions in GCK and a novel non-sense mutation in exon 9 (C364 X). The latter mutation has an autosomal dominant inheritance pattern. Accordingly, this novel mutation segregates with diabetes phenotype in this family.
Authors:
B Knebel; S Jacob; C V Boxberg; D Müller-Wieland; J Kotzka
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association     Volume:  112     ISSN:  0947-7349     ISO Abbreviation:  Exp. Clin. Endocrinol. Diabetes     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-06-24     Completed Date:  2004-12-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9505926     Medline TA:  Exp Clin Endocrinol Diabetes     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  298-301     Citation Subset:  IM    
Affiliation:
Institute for Clinical Biochemistry and Pathobiochemistry, German Diabetes Center at the Heinrich-Heine-University Düsseldorf, Auf'm Hennekamp 65, 40225 Düsseldorf, Germany.
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MeSH Terms
Descriptor/Qualifier:
Animals
Codon, Nonsense / genetics*
DNA-Binding Proteins / genetics
Diabetes Mellitus, Type 2 / genetics*
Exons / genetics*
Female
Germany
Glucokinase / genetics*
Hepatocyte Nuclear Factor 1
Hepatocyte Nuclear Factor 1-alpha
Heterozygote
Male
Nuclear Proteins / genetics
Pedigree
Phenotype
Sequence Analysis, DNA
Transcription Factors / genetics
Chemical
Reg. No./Substance:
0/Codon, Nonsense; 0/DNA-Binding Proteins; 0/Hepatocyte Nuclear Factor 1-alpha; 0/Nuclear Proteins; 0/Transcription Factors; 126548-29-6/Hepatocyte Nuclear Factor 1; EC 2.7.1.2/Glucokinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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