GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation
Joint Authors
Burdach, Stefan
Eder, Gabriele
Warncke, Katharina
Engelsberger, Ilse
Lohse, Peter
Ziegler, Annette Gabriele
Bonfig, Walter
Hermanns, Sandra
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-04-26
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Pharmacy, Health & Medical Sciences
Pharmacology
Abstract EN
Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait.
The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor.
The enzyme normally acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion.
We report here a three-generation nonobese family diagnosed with diabetes.
All affected family members presented with mild hyperglycemia and mostly slightly elevated hemoglobin A1c values.
Genetic testing revealed a novel heterozygous T → C exchange in exon 8 of the GCK gene which resulted in a phenylalanine330 TTC → serine (TCC)/p.Phe330Ser/F330S substitution.
American Psychological Association (APA)
Bonfig, Walter& Hermanns, Sandra& Warncke, Katharina& Eder, Gabriele& Engelsberger, Ilse& Burdach, Stefan…[et al.]. 2011. GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. ISRN Pediatrics،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-489687
Modern Language Association (MLA)
Bonfig, Walter…[et al.]. GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. ISRN Pediatrics No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-489687
American Medical Association (AMA)
Bonfig, Walter& Hermanns, Sandra& Warncke, Katharina& Eder, Gabriele& Engelsberger, Ilse& Burdach, Stefan…[et al.]. GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. ISRN Pediatrics. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-489687
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-489687