Abstract

Permanent Neonatal Diabetes Mellitus Due to a C96Y Heterozygous Mutation in the Insulin Gene. A Case Report

Context Neonatal diabetes is a rare disorder with an incidence of 1 in 215,000-500,000 live births with 50% of them having permanent neonatal diabetes mellitus. Case report We present a case of permanent neonatal diabetes mellitus due to a C96Y (c.287G>A; p.Cys96Tyr) heterozygous mutation in the insulin (INS) gene. Both the patient and his father (who had childhoodonset insulin-requiring diabetes) were found to be carriers of a heterozygous missense mutation C96Y in exon 3 of the INS gene. It has been hypothesized that these mutations disrupt the folding of the proinsulin molecule and result in a misfolded protein or retention of the protein in the endoplasmic reticulum, resulting in endoplasmic reticulum stress and beta cell apoptosis. Subjects with this form of diabetes will need lifelong insulin therapy. Conclusion Insulin gene mutations appear to be an important cause of neonatal diabetes worldwide. This is the first report of a case from the Indian subcontinent. It is important to carry out genetic tests for mutations linked to pancreatic beta cell dysfunction in all patients with persistent neonatal diabetes mellitus in order to decide on therapy


Author(s): Anish Ahamed, Ambika Gopalakrishnan Unnikrishnan, Sanket Sharad Pendsey, Sheela Nampoothiri, Nisha Bhavani, Valliyaparambil Pavithran Praveen, Harish Kumar, Rohinivilasam Vasukutty Jayakumar, Vasantha Nair, Sian Ellard, Emma L Edghill

Abstract | Full-Text | PDF

Share this  Facebook  Twitter  LinkedIn  Google+

Abstracted/Indexed in

  • Index Copernicus
  • Academic Journals Database
  • Genamics JournalSeek
  • Academic Keys
  • China National Knowledge Infrastructure (CNKI)
  • CiteFactor
  • Scimago
  • British Library
  • Electronic Journals Library
  • Directory of Research Journal Indexing (DRJI)
  • WorldCat
  • Emerging Sources Citation Index (ESCI)
  • EBSCO Host
  • MIAR
  • International Committee of Medical Journal Editors (ICMJE)
  • University of Zurich - UZH
  • University Grants Commission
  • SWB Online-Katalog
  • Scholarsteer
  • Geneva Foundation for Medical Education and Research
  • Secret Search Engine Labs
Flyer image