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Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene
- Source :
- Pediatric Diabetes. 9:245-249
- Publication Year :
- 2008
- Publisher :
- Hindawi Limited, 2008.
-
Abstract
- Glucokinase deficiency is an unfrequent cause of permanent neonatal diabetes (PND), as only seven patients have been reported, either homozygous for a missense or frameshift mutation or compound heterozygous for both of them. We report here the first known case caused by a homozygous nonsense mutation (Y61X) in the glucokinase gene (GCK) that introduces a premature stop codon, generating a truncated protein that is predicted to be completely inactive as it lacks both the glucose- and the adenosine triphosphate-binding sites. The proband, born to consanguineous parents, was a full-term, intra-uterine growth-retarded male newborn who presented with a glycaemia of 129 mg/dL (7.16 mmol/L) on his second day of life, increasing thereafter up to 288 mg/dL (15.98 mmol/L) and 530 mg/dL (29.41 mmol/L) over the next 24 h, in the face of low serum insulin (
- Subjects :
- Male
Proband
medicine.medical_specialty
Injections, Subcutaneous
Endocrinology, Diabetes and Metabolism
medicine.medical_treatment
Nonsense mutation
Compound heterozygosity
Frameshift mutation
Consanguinity
Internal medicine
Glucokinase
Internal Medicine
medicine
Humans
Insulin
Missense mutation
Escherichia coli Infections
business.industry
Homozygote
Infant, Newborn
Impaired fasting glucose
medicine.disease
Anti-Bacterial Agents
Pedigree
Diabetes Mellitus, Type 1
Endocrinology
Codon, Nonsense
Hyperglycemia
Pediatrics, Perinatology and Child Health
Female
business
Subjects
Details
- ISSN :
- 13995448 and 1399543X
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Pediatric Diabetes
- Accession number :
- edsair.doi.dedup.....3d80b4a19731f649b514b295bbbaadb1