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Iranian Neonatal Diabetes Mellitus Due to Mutation in Pdx1 Gene: A Case Report Publisher Pubmed



Sahebi L1 ; Niknafs N1 ; Dalili H1 ; Amini E2 ; Esmaeilnia T2 ; Amoli M3 ; Farrokhzad N2
Authors
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Authors Affiliations
  1. 1. Institute of Family Health, Breastfeeding Research Center, Tehran University of Medical Science, Tehran, Iran
  2. 2. Institute of Family Health, Maternal-Fetal and Neonatal Research Center, Tehran University of Medical Science, Tehran, Iran
  3. 3. Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Journal of Medical Case Reports Published:2019


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. © 2019 The Author(s).