A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father, grandfather and great grandfather suffered type 2 DM. Seve...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2011/768610 |
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| author | N. H. Birkebæk J. S. Sørensen J. Vikre-Jørgensen P. K. A. Jensen O. Pedersen T. Hansen |
| author_facet | N. H. Birkebæk J. S. Sørensen J. Vikre-Jørgensen P. K. A. Jensen O. Pedersen T. Hansen |
| author_sort | N. H. Birkebæk |
| collection | DOAJ |
| description | We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father, grandfather and great grandfather suffered type 2 DM. Several blood glucose profiles showed (BG) of 6.5–10 mmol/L L. After three years on neutral insulin Hagedorn (NPH) in a dose of 0.3 IU/kg/day haemoglobin A1c (HbA1c) was 6.8%. Treatment was changed to sulphonylurea 750 mg a day, and after 4 years HbA1c was 7%. At that time a multiplex ligation-dependent amplification gene dosage assay (MLPA) was done, revealing a whole GCK gene deletion. Medical treatment was ceased, and after one year HbA1c was 6.8%. This case underscores the importance of a MLPA examination if the phenotype of a patient is strongly indicative of GCK insufficiency and no mutation is identified using direct sequencing. |
| format | Article |
| id | doaj-art-316bb8f0bc4e43e1991ccfd8eebaeb58 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-316bb8f0bc4e43e1991ccfd8eebaeb582025-02-03T01:10:18ZengWileyCase Reports in Genetics2090-65442090-65522011-01-01201110.1155/2011/768610768610A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK InsufficiencyN. H. Birkebæk0J. S. Sørensen1J. Vikre-Jørgensen2P. K. A. Jensen3O. Pedersen4T. Hansen5Department of Pediatric, Aarhus University Hospital, Skejby, 8200 Aarhus C, DenmarkDepartment of Pediatric, Aarhus University Hospital, Skejby, 8200 Aarhus C, DenmarkDepartment of Pediatric, Aarhus University Hospital, Skejby, 8200 Aarhus C, DenmarkDepartment of Clinical Genetic, Aarhus University Hospital, Nørrebrogade, 8200 Aarhus C, DenmarkHagedorn Research Institute, 2820 Gentofte, DenmarkNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, 1350 Copenhagen K, DenmarkWe report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father, grandfather and great grandfather suffered type 2 DM. Several blood glucose profiles showed (BG) of 6.5–10 mmol/L L. After three years on neutral insulin Hagedorn (NPH) in a dose of 0.3 IU/kg/day haemoglobin A1c (HbA1c) was 6.8%. Treatment was changed to sulphonylurea 750 mg a day, and after 4 years HbA1c was 7%. At that time a multiplex ligation-dependent amplification gene dosage assay (MLPA) was done, revealing a whole GCK gene deletion. Medical treatment was ceased, and after one year HbA1c was 6.8%. This case underscores the importance of a MLPA examination if the phenotype of a patient is strongly indicative of GCK insufficiency and no mutation is identified using direct sequencing.http://dx.doi.org/10.1155/2011/768610 |
| spellingShingle | N. H. Birkebæk J. S. Sørensen J. Vikre-Jørgensen P. K. A. Jensen O. Pedersen T. Hansen A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency Case Reports in Genetics |
| title | A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency |
| title_full | A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency |
| title_fullStr | A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency |
| title_full_unstemmed | A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency |
| title_short | A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency |
| title_sort | de novo whole gck gene deletion not detected by gene sequencing in a boy with phenotypic gck insufficiency |
| url | http://dx.doi.org/10.1155/2011/768610 |
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