Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report

Journal of Medical Case Reports
Leyla SahebiNahid Farrokhzad

Abstract

Neonatal diabetes mellitus with hyperglycemia during the first 6 months of life is a rare disorder that can occur in all races and societies. 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. We reported a case of neonatal diabetes mellitus due to novel homozygous mutation in the PDX1 gene without exocrine pancreas manifestations.

References

Jul 31, 2007·Molecular Genetics and Metabolism·Daniella A BabuRaghavendra G Mirmira
Aug 5, 2008·Genes & Development·Jennifer M Oliver-Krasinski, Doris A Stoffers
Jan 17, 2013·Diabetic Medicine : a Journal of the British Diabetic Association·E De FrancoS Ellard
Jun 5, 2011·Journal of Diabetes Investigation·Rochelle N NaylorLouis H Philipson
Oct 27, 2016·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Masaki TakagiTomonobu Hasegawa
Nov 4, 2016·Pediatrics International : Official Journal of the Japan Pediatric Society·Kazuaki NagashimaNobuya Inagaki

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Citations

Feb 11, 2021·Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy·Jiangman LiuJingshan Shi

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