Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

N. Vionnet, M. Stoffel, J. Takeda, K. Yasuda, G. I. Bell, H. Zouali, S. Lesage, G. Velho, F. Iris, Ph Passa, Ph Froguel, David Cohen

Research output: Contribution to journalArticle

522 Citations (Scopus)

Abstract

MATURITY-ONSET diabetes of the young (MODY) is a form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM) which is characterized by an early age at onset and an autosomal dominant mode of inheritance1. Except for these features, the clinical characteristics of patients with MODY are similar to those with the more common late-onset form(s) of NIDDM. Previously2 we observed tight linkage between DNA polymorphisms in the glucokinase gene on the short arm of chromosome 7 and NIDDM in a cohort of sixteen French families having MODY. Glucokinase is an enzyme that catalyses the formation of glucose-6-phosphate from glucose and may be involved in the regulation of insulin secretion and integration of hepatic intermediary metabolism3. Because the glucokinase gene was a candidate for the site of the genetic lesion in these families, we scanned this gene for mutations. Here we report the identification of a nonsense mutation in the gene encoding glucokinase and its linkage with early-onset diabetes in one family. To our knowledge, this result is the first evidence implicating a mutation in a gene involved in glucose metabolism in the pathogenesis of NIDDM.

Original languageEnglish (US)
Pages (from-to)721-722
Number of pages2
JournalNature
Volume356
Issue number6371
StatePublished - Apr 23 1992
Externally publishedYes

Fingerprint

Glucokinase
Nonsense Codon
Type 2 Diabetes Mellitus
Genes
Glucose
Glucose-6-Phosphate
Mutation
Chromosomes, Human, Pair 7
Age of Onset
Insulin
Liver
DNA
Enzymes

ASJC Scopus subject areas

  • General

Cite this

Vionnet, N., Stoffel, M., Takeda, J., Yasuda, K., Bell, G. I., Zouali, H., ... Cohen, D. (1992). Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature, 356(6371), 721-722.

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. / Vionnet, N.; Stoffel, M.; Takeda, J.; Yasuda, K.; Bell, G. I.; Zouali, H.; Lesage, S.; Velho, G.; Iris, F.; Passa, Ph; Froguel, Ph; Cohen, David.

In: Nature, Vol. 356, No. 6371, 23.04.1992, p. 721-722.

Research output: Contribution to journalArticle

Vionnet, N, Stoffel, M, Takeda, J, Yasuda, K, Bell, GI, Zouali, H, Lesage, S, Velho, G, Iris, F, Passa, P, Froguel, P & Cohen, D 1992, 'Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus', Nature, vol. 356, no. 6371, pp. 721-722.
Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992 Apr 23;356(6371):721-722.
Vionnet, N. ; Stoffel, M. ; Takeda, J. ; Yasuda, K. ; Bell, G. I. ; Zouali, H. ; Lesage, S. ; Velho, G. ; Iris, F. ; Passa, Ph ; Froguel, Ph ; Cohen, David. / Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. In: Nature. 1992 ; Vol. 356, No. 6371. pp. 721-722.
@article{7132bffbd1974327897a7b867e3cbf22,
title = "Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus",
abstract = "MATURITY-ONSET diabetes of the young (MODY) is a form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM) which is characterized by an early age at onset and an autosomal dominant mode of inheritance1. Except for these features, the clinical characteristics of patients with MODY are similar to those with the more common late-onset form(s) of NIDDM. Previously2 we observed tight linkage between DNA polymorphisms in the glucokinase gene on the short arm of chromosome 7 and NIDDM in a cohort of sixteen French families having MODY. Glucokinase is an enzyme that catalyses the formation of glucose-6-phosphate from glucose and may be involved in the regulation of insulin secretion and integration of hepatic intermediary metabolism3. Because the glucokinase gene was a candidate for the site of the genetic lesion in these families, we scanned this gene for mutations. Here we report the identification of a nonsense mutation in the gene encoding glucokinase and its linkage with early-onset diabetes in one family. To our knowledge, this result is the first evidence implicating a mutation in a gene involved in glucose metabolism in the pathogenesis of NIDDM.",
author = "N. Vionnet and M. Stoffel and J. Takeda and K. Yasuda and Bell, {G. I.} and H. Zouali and S. Lesage and G. Velho and F. Iris and Ph Passa and Ph Froguel and David Cohen",
year = "1992",
month = "4",
day = "23",
language = "English (US)",
volume = "356",
pages = "721--722",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "6371",

}

TY - JOUR

T1 - Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

AU - Vionnet, N.

AU - Stoffel, M.

AU - Takeda, J.

AU - Yasuda, K.

AU - Bell, G. I.

AU - Zouali, H.

AU - Lesage, S.

AU - Velho, G.

AU - Iris, F.

AU - Passa, Ph

AU - Froguel, Ph

AU - Cohen, David

PY - 1992/4/23

Y1 - 1992/4/23

N2 - MATURITY-ONSET diabetes of the young (MODY) is a form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM) which is characterized by an early age at onset and an autosomal dominant mode of inheritance1. Except for these features, the clinical characteristics of patients with MODY are similar to those with the more common late-onset form(s) of NIDDM. Previously2 we observed tight linkage between DNA polymorphisms in the glucokinase gene on the short arm of chromosome 7 and NIDDM in a cohort of sixteen French families having MODY. Glucokinase is an enzyme that catalyses the formation of glucose-6-phosphate from glucose and may be involved in the regulation of insulin secretion and integration of hepatic intermediary metabolism3. Because the glucokinase gene was a candidate for the site of the genetic lesion in these families, we scanned this gene for mutations. Here we report the identification of a nonsense mutation in the gene encoding glucokinase and its linkage with early-onset diabetes in one family. To our knowledge, this result is the first evidence implicating a mutation in a gene involved in glucose metabolism in the pathogenesis of NIDDM.

AB - MATURITY-ONSET diabetes of the young (MODY) is a form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM) which is characterized by an early age at onset and an autosomal dominant mode of inheritance1. Except for these features, the clinical characteristics of patients with MODY are similar to those with the more common late-onset form(s) of NIDDM. Previously2 we observed tight linkage between DNA polymorphisms in the glucokinase gene on the short arm of chromosome 7 and NIDDM in a cohort of sixteen French families having MODY. Glucokinase is an enzyme that catalyses the formation of glucose-6-phosphate from glucose and may be involved in the regulation of insulin secretion and integration of hepatic intermediary metabolism3. Because the glucokinase gene was a candidate for the site of the genetic lesion in these families, we scanned this gene for mutations. Here we report the identification of a nonsense mutation in the gene encoding glucokinase and its linkage with early-onset diabetes in one family. To our knowledge, this result is the first evidence implicating a mutation in a gene involved in glucose metabolism in the pathogenesis of NIDDM.

UR - http://www.scopus.com/inward/record.url?scp=0026562918&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026562918&partnerID=8YFLogxK

M3 - Article

VL - 356

SP - 721

EP - 722

JO - Nature

JF - Nature

SN - 0028-0836

IS - 6371

ER -