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Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report
BACKGROUND: Neonatal diabetes mellitus with hyperglycemia during the first 6 months of life is a rare disorder that can occur in all races and societies. CASE PRESENTATION: In this study, we introduced an Iranian (Persian) 65-day-old patient with neonatal diabetes mellitus with novel homozygous muta...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670147/ https://www.ncbi.nlm.nih.gov/pubmed/31366392 http://dx.doi.org/10.1186/s13256-019-2149-x |
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author | Sahebi, Leyla Niknafs, Nikoo Dalili, Hosein Amini, Elahe Esmaeilnia, Tahereh Amoli, Mahsa Farrokhzad, Nahid |
author_facet | Sahebi, Leyla Niknafs, Nikoo Dalili, Hosein Amini, Elahe Esmaeilnia, Tahereh Amoli, Mahsa Farrokhzad, Nahid |
author_sort | Sahebi, Leyla |
collection | PubMed |
description | BACKGROUND: Neonatal diabetes mellitus with hyperglycemia during the first 6 months of life is a rare disorder that can occur in all races and societies. CASE PRESENTATION: In this study, we introduced an Iranian (Persian) 65-day-old patient with neonatal diabetes mellitus with novel homozygous mutation in the pancreatic and duodenal homeobox 1, PDX1, gene, which is also known as IPF1 gene, located in exon 2. This case was a newborn boy born in Vali-Asr Hospital, Tehran; he was diagnosed as having hyperglycemia on 28th day. Genetic analysis detected a homozygous mutation on PDX1 gene on chromosome 13. It is a novel homozygous mutation in the PDX1 gene (NM_000209.3), p.Phe167Val. This mutation was confirmed by Sanger sequencing. There was no evidence of agenesis of the pancreas. CONCLUSIONS: We reported a case of neonatal diabetes mellitus due to novel homozygous mutation in the PDX1 gene without exocrine pancreas manifestations. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13256-019-2149-x) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-6670147 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-66701472019-08-06 Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report Sahebi, Leyla Niknafs, Nikoo Dalili, Hosein Amini, Elahe Esmaeilnia, Tahereh Amoli, Mahsa Farrokhzad, Nahid J Med Case Rep Case Report BACKGROUND: Neonatal diabetes mellitus with hyperglycemia during the first 6 months of life is a rare disorder that can occur in all races and societies. CASE PRESENTATION: In this study, we introduced an Iranian (Persian) 65-day-old patient with neonatal diabetes mellitus with novel homozygous mutation in the pancreatic and duodenal homeobox 1, PDX1, gene, which is also known as IPF1 gene, located in exon 2. This case was a newborn boy born in Vali-Asr Hospital, Tehran; he was diagnosed as having hyperglycemia on 28th day. Genetic analysis detected a homozygous mutation on PDX1 gene on chromosome 13. It is a novel homozygous mutation in the PDX1 gene (NM_000209.3), p.Phe167Val. This mutation was confirmed by Sanger sequencing. There was no evidence of agenesis of the pancreas. CONCLUSIONS: We reported a case of neonatal diabetes mellitus due to novel homozygous mutation in the PDX1 gene without exocrine pancreas manifestations. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13256-019-2149-x) contains supplementary material, which is available to authorized users. BioMed Central 2019-08-01 /pmc/articles/PMC6670147/ /pubmed/31366392 http://dx.doi.org/10.1186/s13256-019-2149-x Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Sahebi, Leyla Niknafs, Nikoo Dalili, Hosein Amini, Elahe Esmaeilnia, Tahereh Amoli, Mahsa Farrokhzad, Nahid Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report |
title | Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report |
title_full | Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report |
title_fullStr | Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report |
title_full_unstemmed | Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report |
title_short | Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report |
title_sort | iranian neonatal diabetes mellitus due to mutation in pdx1 gene: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670147/ https://www.ncbi.nlm.nih.gov/pubmed/31366392 http://dx.doi.org/10.1186/s13256-019-2149-x |
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