MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.

2.50
Hdl Handle:
http://hdl.handle.net/2336/33741
Title:
MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.
Authors:
Kristinsson, S Y; Thorolfsdottir, E T; Talseth, B; Steingrimsson, E; Thorsson, A V; Helgason, T; Hreidarsson, A B; Arngrimsson, R
Citation:
Diabetologia 2001, 44(11):2098-103
Issue Date:
1-Nov-2001
Abstract:
AIMS/HYPOTHESIS: Five different types of maturity-onset diabetes of the young (MODY) have been identified until now but mutation screening suggests that more MODY genes exist. Mutations in genes encoding transcription factors essential for normal development and function of pancreatic beta cells has recently become important in studying the genetics of Type II (non-insulin-dependent) diabetes mellitus. Patients with MODY and their families in Iceland were screened for mutations in the transcription factor genes. METHODS: Clinical and biochemical information on individuals with MODY was collected and their family trees constructed. Linkage analysis was carried out on chromosomal regions known to harbour genes previously shown to be associated with MODY. Mutations were identified by direct sequencing. RESULTS: Three families were identified. Two of these showed linkage to chromosome 12 and carried mutations in exon 4 of the HNF-1alpha gene (290fsdelC and R272C). However, the third family showed no linkage to the previously described MODY genes but shared a novel mutation in the NeuroD1 gene on chromosome 2q32. This mutation, a glutamate to lysine substitution at codon 110, resides in the basic domain of the protein. CONCLUSION/INTERPRETATION: Mutations in MODY subjects have been identified in the Icelandic population. In addition this study identified the NeuroD1 gene as the gene responsible for the sixth type of MODY.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.springerlink.com/content/l3p3uj28v11drbf2

Full metadata record

DC FieldValue Language
dc.contributor.authorKristinsson, S Y-
dc.contributor.authorThorolfsdottir, E T-
dc.contributor.authorTalseth, B-
dc.contributor.authorSteingrimsson, E-
dc.contributor.authorThorsson, A V-
dc.contributor.authorHelgason, T-
dc.contributor.authorHreidarsson, A B-
dc.contributor.authorArngrimsson, R-
dc.date.accessioned2008-07-31T15:16:58Z-
dc.date.available2008-07-31T15:16:58Z-
dc.date.issued2001-11-01-
dc.date.submitted2008-07-31-
dc.identifier.citationDiabetologia 2001, 44(11):2098-103en
dc.identifier.issn0012-186X-
dc.identifier.pmid11719843-
dc.identifier.doi10.1007/s001250100016-
dc.identifier.urihttp://hdl.handle.net/2336/33741-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractAIMS/HYPOTHESIS: Five different types of maturity-onset diabetes of the young (MODY) have been identified until now but mutation screening suggests that more MODY genes exist. Mutations in genes encoding transcription factors essential for normal development and function of pancreatic beta cells has recently become important in studying the genetics of Type II (non-insulin-dependent) diabetes mellitus. Patients with MODY and their families in Iceland were screened for mutations in the transcription factor genes. METHODS: Clinical and biochemical information on individuals with MODY was collected and their family trees constructed. Linkage analysis was carried out on chromosomal regions known to harbour genes previously shown to be associated with MODY. Mutations were identified by direct sequencing. RESULTS: Three families were identified. Two of these showed linkage to chromosome 12 and carried mutations in exon 4 of the HNF-1alpha gene (290fsdelC and R272C). However, the third family showed no linkage to the previously described MODY genes but shared a novel mutation in the NeuroD1 gene on chromosome 2q32. This mutation, a glutamate to lysine substitution at codon 110, resides in the basic domain of the protein. CONCLUSION/INTERPRETATION: Mutations in MODY subjects have been identified in the Icelandic population. In addition this study identified the NeuroD1 gene as the gene responsible for the sixth type of MODY.en
dc.language.isoenen
dc.publisherSpringer Verlagen
dc.relation.urlhttp://www.springerlink.com/content/l3p3uj28v11drbf2en
dc.subject.meshAge of Onseten
dc.subject.meshBase Sequenceen
dc.subject.meshBasic Helix-Loop-Helix Transcription Factorsen
dc.subject.meshDNA-Binding Proteinsen
dc.subject.meshDiabetes Mellitus, Type 1en
dc.subject.meshDiabetes Mellitus, Type 2en
dc.subject.meshDiabetes, Gestationalen
dc.subject.meshFemaleen
dc.subject.meshGenetic Markersen
dc.subject.meshGlucose Tolerance Testen
dc.subject.meshHepatocyte Nuclear Factor 1en
dc.subject.meshHepatocyte Nuclear Factor 1-alphaen
dc.subject.meshHepatocyte Nuclear Factor 1-betaen
dc.subject.meshHumansen
dc.subject.meshMutationen
dc.subject.meshNuclear Proteinsen
dc.subject.meshPedigreeen
dc.subject.meshPregnancyen
dc.subject.meshReference Valuesen
dc.subject.meshTrans-Activatorsen
dc.subject.meshTranscription Factorsen
dc.titleMODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.en
dc.typeArticleen
dc.contributor.departmentUnit of Medical Genetics, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.en
dc.identifier.journalDiabetologiaen

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