| Permanent neonatal diabetes due to a novel insulin signal peptide mutation. | |
| | |
MedLine Citation:
|
PMID: 23350652 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo mutation. The non-conservative change substitutes the highly conserved L(13) residue within the hydrophobic core region of the preproinsulin signal peptide. Given the frequent tendency of heterozygous INS mutations to exhibit dominant negative disease pathogenesis, it is likely that the mutant preproinsulin perturbed the non-mutant counterpart progression and processing within the β-cells, and this resulted to a permanent form of congenital diabetes. |
| | |
Authors:
|
Suhaimi Hussain; Johari Mohd Ali; Muhammad Yazid Jalaludin; Fatimah Harun |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2013-1-28 |
Journal Detail:
|
Title: Pediatric diabetes Volume: - ISSN: 1399-5448 ISO Abbreviation: Pediatr Diabetes Publication Date: 2013 Jan |
Date Detail:
|
Created Date: 2013-1-28 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 100939345 Medline TA: Pediatr Diabetes Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
© 2013 John Wiley & Sons A/S. |
Affiliation:
|
Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Synthesis of Long-T1 Silicon Nanoparticles for Hyperpolarized 29Si Magnetic Resonance Imaging.
Next Document: Type 2 Congenital Pulmonary Airway Malformation and Congenital Nephrotic Syndrome: Report of a New A...