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Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes

Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes
We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity-onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine. One out of fifty patients diagnosed with classical late-onset type 2 diabetes mellitus was also found to have this mutation. All nine relatives of this patient who have inherited the mutation have type 2 diabetes, although six others without the mutation are also present with diabetes. The discovery that glucokinase mutations can cause MODY and was also found in ten affected members of a pedigree with type 2 diabetes in which MODY had not previously been considered indicates that diagnosis based on molecular pathology will be helpful in understanding the aetiology of type 2 diabetes.
1061-4036
153-156
Stoffel, M.
170a2b75-2b02-42d1-bfb8-671887c6803f
Patel, P.
244cc88b-5b33-43f8-93d8-2656943ad0c4
Lo, Y.M.
d0fffc9b-674b-41e7-8c0b-761e45ea16c0
Hattersley, A.T.
c555d835-dd08-415c-be14-26940d5c582d
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Page, R.
847e693c-72e8-4cda-9171-483f24c43805
Bell, J.I.
fabe72ad-4d92-4277-bd09-6d4fa7c6f6c5
Bell, G.I.
b06376aa-95b8-4861-8f25-c37d51833d65
Turner, R.C.
6ffc0e79-dcd2-4db0-acd9-bc3fc291b028
Wainscote, J.S.
bfbaf1d5-0cee-435b-96f0-7aa1b476eb5a
Stoffel, M.
170a2b75-2b02-42d1-bfb8-671887c6803f
Patel, P.
244cc88b-5b33-43f8-93d8-2656943ad0c4
Lo, Y.M.
d0fffc9b-674b-41e7-8c0b-761e45ea16c0
Hattersley, A.T.
c555d835-dd08-415c-be14-26940d5c582d
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Page, R.
847e693c-72e8-4cda-9171-483f24c43805
Bell, J.I.
fabe72ad-4d92-4277-bd09-6d4fa7c6f6c5
Bell, G.I.
b06376aa-95b8-4861-8f25-c37d51833d65
Turner, R.C.
6ffc0e79-dcd2-4db0-acd9-bc3fc291b028
Wainscote, J.S.
bfbaf1d5-0cee-435b-96f0-7aa1b476eb5a

Stoffel, M., Patel, P., Lo, Y.M., Hattersley, A.T., Lucassen, A., Page, R., Bell, J.I., Bell, G.I., Turner, R.C. and Wainscote, J.S. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genetics, 2 (2), 153-156. (doi:10.1038/ng1092-153). (PMID:1303265)

Record type: Article

Abstract

We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity-onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine. One out of fifty patients diagnosed with classical late-onset type 2 diabetes mellitus was also found to have this mutation. All nine relatives of this patient who have inherited the mutation have type 2 diabetes, although six others without the mutation are also present with diabetes. The discovery that glucokinase mutations can cause MODY and was also found in ten affected members of a pedigree with type 2 diabetes in which MODY had not previously been considered indicates that diagnosis based on molecular pathology will be helpful in understanding the aetiology of type 2 diabetes.

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Published date: October 1992

Identifiers

Local EPrints ID: 181229
URI: http://eprints.soton.ac.uk/id/eprint/181229
ISSN: 1061-4036
PURE UUID: dc10b611-05b5-4e25-8fc6-b54e1858b458
ORCID for A. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 13 Apr 2011 14:33
Last modified: 15 Mar 2024 03:11

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Contributors

Author: M. Stoffel
Author: P. Patel
Author: Y.M. Lo
Author: A.T. Hattersley
Author: A. Lucassen ORCID iD
Author: R. Page
Author: J.I. Bell
Author: G.I. Bell
Author: R.C. Turner
Author: J.S. Wainscote

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