Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report
Abstract 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 homozygo...
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| Format: | Article |
| Language: | English |
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BMC
2019-08-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13256-019-2149-x |
| _version_ | 1818296525144457216 |
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| author | Leyla Sahebi Nikoo Niknafs Hosein Dalili Elahe Amini Tahereh Esmaeilnia Mahsa Amoli Nahid Farrokhzad |
| author_facet | Leyla Sahebi Nikoo Niknafs Hosein Dalili Elahe Amini Tahereh Esmaeilnia Mahsa Amoli Nahid Farrokhzad |
| author_sort | Leyla Sahebi |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-13T04:04:55Z |
| format | Article |
| id | doaj.art-daacd998a9004c4aa9c4daf2cd9906f4 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-13T04:04:55Z |
| publishDate | 2019-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-daacd998a9004c4aa9c4daf2cd9906f42022-12-22T00:00:15ZengBMCJournal of Medical Case Reports1752-19472019-08-011311610.1186/s13256-019-2149-xIranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case reportLeyla Sahebi0Nikoo Niknafs1Hosein Dalili2Elahe Amini3Tahereh Esmaeilnia4Mahsa Amoli5Nahid Farrokhzad6Institute of Family Health , Breastfeeding Research Center, Tehran University of Medical ScienceInstitute of Family Health , Breastfeeding Research Center, Tehran University of Medical ScienceInstitute of Family Health , Breastfeeding Research Center, Tehran University of Medical ScienceInstitute of Family Health, Maternal-Fetal and Neonatal Research Center, Tehran University of Medical ScienceInstitute of Family Health, Maternal-Fetal and Neonatal Research Center, Tehran University of Medical ScienceMetabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical SciencesInstitute of Family Health, Maternal-Fetal and Neonatal Research Center, Tehran University of Medical ScienceAbstract 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.http://link.springer.com/article/10.1186/s13256-019-2149-xNeonatal diabetes mellitusPDX1 geneMutation |
| spellingShingle | Leyla Sahebi Nikoo Niknafs Hosein Dalili Elahe Amini Tahereh Esmaeilnia Mahsa Amoli Nahid Farrokhzad Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report Journal of Medical Case Reports Neonatal diabetes mellitus PDX1 gene Mutation |
| 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 | Neonatal diabetes mellitus PDX1 gene Mutation |
| url | http://link.springer.com/article/10.1186/s13256-019-2149-x |
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