Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sahebi, Leyla, Niknafs, Nikoo, Dalili, Hosein, Amini, Elahe, Esmaeilnia, Tahereh, Amoli, Mahsa, Farrokhzad, Nahid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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
_version_ 1783440502975102976
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
work_keys_str_mv AT sahebileyla iranianneonataldiabetesmellitusduetomutationinpdx1geneacasereport
AT niknafsnikoo iranianneonataldiabetesmellitusduetomutationinpdx1geneacasereport
AT dalilihosein iranianneonataldiabetesmellitusduetomutationinpdx1geneacasereport
AT aminielahe iranianneonataldiabetesmellitusduetomutationinpdx1geneacasereport
AT esmaeilniatahereh iranianneonataldiabetesmellitusduetomutationinpdx1geneacasereport
AT amolimahsa iranianneonataldiabetesmellitusduetomutationinpdx1geneacasereport
AT farrokhzadnahid iranianneonataldiabetesmellitusduetomutationinpdx1geneacasereport