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Permanent neonatal diabetes due to a novel insulin signal peptide mutation
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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons A/S
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712474/ https://www.ncbi.nlm.nih.gov/pubmed/23350652 http://dx.doi.org/10.1111/pedi.12011 |
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author | Hussain, Suhaimi Mohd Ali, Johari Jalaludin, Muhammad Yazid Harun, Fatimah |
author_facet | Hussain, Suhaimi Mohd Ali, Johari Jalaludin, Muhammad Yazid Harun, Fatimah |
author_sort | Hussain, Suhaimi |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3712474 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | John Wiley & Sons A/S |
record_format | MEDLINE/PubMed |
spelling | pubmed-37124742013-07-25 Permanent neonatal diabetes due to a novel insulin signal peptide mutation Hussain, Suhaimi Mohd Ali, Johari Jalaludin, Muhammad Yazid Harun, Fatimah Pediatr Diabetes Case Reports 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. John Wiley & Sons A/S 2013-06 2013-01-28 /pmc/articles/PMC3712474/ /pubmed/23350652 http://dx.doi.org/10.1111/pedi.12011 Text en © 2013 John Wiley & Sons A/S http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation. |
spellingShingle | Case Reports Hussain, Suhaimi Mohd Ali, Johari Jalaludin, Muhammad Yazid Harun, Fatimah Permanent neonatal diabetes due to a novel insulin signal peptide mutation |
title | Permanent neonatal diabetes due to a novel insulin signal peptide mutation |
title_full | Permanent neonatal diabetes due to a novel insulin signal peptide mutation |
title_fullStr | Permanent neonatal diabetes due to a novel insulin signal peptide mutation |
title_full_unstemmed | Permanent neonatal diabetes due to a novel insulin signal peptide mutation |
title_short | Permanent neonatal diabetes due to a novel insulin signal peptide mutation |
title_sort | permanent neonatal diabetes due to a novel insulin signal peptide mutation |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712474/ https://www.ncbi.nlm.nih.gov/pubmed/23350652 http://dx.doi.org/10.1111/pedi.12011 |
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