Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Research Abstract Details 

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Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Abstract Text:

PURPOSE: Maturity-onset diabetes of the young (MODY) is a subtype of type 2 diabetes characterized by autosomal-dominant inheritance and early onset. The pathophysiology of MODY is primarily defective insulin secretion resulting from mutations in at least 6 different genes. Most affected patients harbour mutations in either GCK (encoding glucokinase, also called MODY2) and HNF1A (encoding hepatic nuclear factor-1alpha, also called MODY3). We studied Canadian probands to determine if they had mutations in MODY2 or MODY3 genes. METHOD: We used genomic DNA sequencing of probands from 9 previously unreported Canadian MODY families. RESULTS: Five MODY probands had mutations in HNF1A, of which 4 were novel (namely IVS5-1delTAG, E275fsdelGAAG, F268S and L44fsdelC) and 4 had mutations in GCK, of which 2 were novel (E237K and L324P). These mutations expand the spectrum of MODY mutations and bring the total number of Canadian MODY families that have been molecularly defined in our laboratory to 15 (8 MODY3 and 7 MODY2). CONCLUSION: Because of the growing evidence that molecular diagnosis may affect prognosis and treatment, this information may be important in future for Canadian MODY families and their physicians.

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Publishing Authors By Initials

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

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Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical and investigative medicine. Médecine clin

VOLUME: 27

Page Numbers: 135-41

Journal Abbreviation:

ISSN: 0147-958X

DAY: 14

MONTH: Jun

YEAR: 2004

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Information

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LANGUAGE: eng

NlmUniqueID: 7804071

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Information

Substance Name: Protein-Serine-Threonine Kinases

Registry Number: EC 2.7.11.1

Grant and Affiliation Information for Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

AFFILIATION: Robarts Research Institute, London, Ont.

Country: Canada

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MEDLINETA: Clin Invest Med

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