Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
Velho, G. ; Blanché, H. ; Vaxillaire, M. ; Bellanné-Chantelot, C. ; Pardini, V. C. ; Timsit, J. ; Passa, P. ; Deschamps, I. ; Robert, J.-J. ; Weber, I. T. ; Marotta, D. ; Pilkis, S. J. ; Lipkind, G. M. ; Bell, G. I. ; Froguel, P.
Springer
Published 1997
Springer
Published 1997
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1432-0428
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| Keywords: |
Keywords Diabetes mellitus ; MODY ; glucokinase mutations ; insulin secretion ; genetics.
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Summary Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9 missense mutations (A53S, G80A, H137R, T168P, M210T, C213R, V226M, S336L and V367M); 2 nonsense mutations (E248X and S360X); a deletion of one nucleotide resulting in a frameshift (V401del1); a substitution of a conserved nucleotide at a splice acceptor site (L122-1G → T); and a 10 base pair deletion that removed the GT of the splice donor site and the following eight nucleotides (K161 + 2del10). In addition, we found two previously identified mutations: R186X and G261R. Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM. [Diabetologia (1997) 40: 217–224]
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295381426044928 |
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| autor | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. |
| autorsonst | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. |
| book_url | http://dx.doi.org/10.1007/s001250050666 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM199940967 |
| issn | 1432-0428 |
| journal_name | Diabetologia |
| materialart | 1 |
| notes | Summary Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9 missense mutations (A53S, G80A, H137R, T168P, M210T, C213R, V226M, S336L and V367M); 2 nonsense mutations (E248X and S360X); a deletion of one nucleotide resulting in a frameshift (V401del1); a substitution of a conserved nucleotide at a splice acceptor site (L122-1G → T); and a 10 base pair deletion that removed the GT of the splice donor site and the following eight nucleotides (K161 + 2del10). In addition, we found two previously identified mutations: R186X and G261R. Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM. [Diabetologia (1997) 40: 217–224] |
| package_name | Springer |
| publikationsjahr_anzeige | 1997 |
| publikationsjahr_facette | 1997 |
| publikationsjahr_intervall | 8004:1995-1999 |
| publikationsjahr_sort | 1997 |
| publisher | Springer |
| reference | 40 (1997), S. 217-224 |
| schlagwort | Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. |
| search_space | articles |
| shingle_author_1 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. |
| shingle_author_2 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. |
| shingle_author_3 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. |
| shingle_author_4 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. |
| shingle_catch_all_1 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Summary Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9 missense mutations (A53S, G80A, H137R, T168P, M210T, C213R, V226M, S336L and V367M); 2 nonsense mutations (E248X and S360X); a deletion of one nucleotide resulting in a frameshift (V401del1); a substitution of a conserved nucleotide at a splice acceptor site (L122-1G → T); and a 10 base pair deletion that removed the GT of the splice donor site and the following eight nucleotides (K161 + 2del10). In addition, we found two previously identified mutations: R186X and G261R. Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM. [Diabetologia (1997) 40: 217–224] 1432-0428 14320428 Springer |
| shingle_catch_all_2 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Summary Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9 missense mutations (A53S, G80A, H137R, T168P, M210T, C213R, V226M, S336L and V367M); 2 nonsense mutations (E248X and S360X); a deletion of one nucleotide resulting in a frameshift (V401del1); a substitution of a conserved nucleotide at a splice acceptor site (L122-1G → T); and a 10 base pair deletion that removed the GT of the splice donor site and the following eight nucleotides (K161 + 2del10). In addition, we found two previously identified mutations: R186X and G261R. Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM. [Diabetologia (1997) 40: 217–224] 1432-0428 14320428 Springer |
| shingle_catch_all_3 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Summary Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9 missense mutations (A53S, G80A, H137R, T168P, M210T, C213R, V226M, S336L and V367M); 2 nonsense mutations (E248X and S360X); a deletion of one nucleotide resulting in a frameshift (V401del1); a substitution of a conserved nucleotide at a splice acceptor site (L122-1G → T); and a 10 base pair deletion that removed the GT of the splice donor site and the following eight nucleotides (K161 + 2del10). In addition, we found two previously identified mutations: R186X and G261R. Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM. [Diabetologia (1997) 40: 217–224] 1432-0428 14320428 Springer |
| shingle_catch_all_4 | Velho, G. Blanché, H. Vaxillaire, M. Bellanné-Chantelot, C. Pardini, V. C. Timsit, J. Passa, P. Deschamps, I. Robert, J.-J. Weber, I. T. Marotta, D. Pilkis, S. J. Lipkind, G. M. Bell, G. I. Froguel, P. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Keywords Diabetes mellitus MODY glucokinase mutations insulin secretion genetics. Summary Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9 missense mutations (A53S, G80A, H137R, T168P, M210T, C213R, V226M, S336L and V367M); 2 nonsense mutations (E248X and S360X); a deletion of one nucleotide resulting in a frameshift (V401del1); a substitution of a conserved nucleotide at a splice acceptor site (L122-1G → T); and a 10 base pair deletion that removed the GT of the splice donor site and the following eight nucleotides (K161 + 2del10). In addition, we found two previously identified mutations: R186X and G261R. Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM. [Diabetologia (1997) 40: 217–224] 1432-0428 14320428 Springer |
| shingle_title_1 | Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families |
| shingle_title_2 | Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families |
| shingle_title_3 | Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families |
| shingle_title_4 | Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:35:18.010Z |
| titel | Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families |
| titel_suche | Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families |
| topic | WW-YZ |
| uid | nat_lic_papers_NLM199940967 |