A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
Joint Authors
Birkebæk, N. H.
Pedersen, Oluf Borbye
Sørensen, J. S.
Hansen, T.
Vikre-Jørgensen, J.
Jensen, P. K. A.
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-10-20
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Birkebæk, N. H.& Sørensen, J. S.& Vikre-Jørgensen, J.& Jensen, P. K. A.& Pedersen, Oluf Borbye& Hansen, T.. 2011. A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency. Case Reports in Genetics،Vol. 2011, no. 2011, pp.1-3.
https://search.emarefa.net/detail/BIM-497264
Modern Language Association (MLA)
Birkebæk, N. H.…[et al.]. A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency. Case Reports in Genetics No. 2011 (2011), pp.1-3.
https://search.emarefa.net/detail/BIM-497264
American Medical Association (AMA)
Birkebæk, N. H.& Sørensen, J. S.& Vikre-Jørgensen, J.& Jensen, P. K. A.& Pedersen, Oluf Borbye& Hansen, T.. A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency. Case Reports in Genetics. 2011. Vol. 2011, no. 2011, pp.1-3.
https://search.emarefa.net/detail/BIM-497264
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-497264