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Identification of insulin gene variants in neonatal diabetes

Nadida A Gohar1, Walaa A Rabie1, Sahar A Sharaf1

  • 1a Department of Clinical and Chemical Pathology , Kasr Al-Aini Hospital, Cairo University , Cairo , Egypt.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|June 10, 2016
PubMed

Insights

Genetic variations in the insulin gene (INS) were analyzed in Egyptian infants with permanent neonatal diabetes mellitus (PNDM). The study found no significant role for INS gene mutations in PNDM diagnosis within this cohort.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes presenting within the first months of life.
  • Mutations in genes critical for beta-cell function, including the insulin gene (INS), can cause PNDM.
  • Investigating genetic causes is crucial for understanding PNDM pathogenesis and guiding treatment.

Purpose of the Study:

  • To investigate genetic variations in the INS gene in Egyptian infants diagnosed with PNDM.
  • To determine if INS gene mutations are a significant cause of PNDM in the studied population.

Main Methods:

  • Direct gene sequencing of exons 2 and 3, including intronic boundaries, of the INS gene.
  • Screening was performed on 30 PNDM patients and 20 healthy controls.
  • Clinical phenotyping of patients with identified INS variants was conducted.

Main Results:

  • Five variants were identified: four single nucleotide polymorphisms (SNPs) and one synonymous variant (c.36G>A, p.A12A).
  • Allelic frequencies ranged from 1.7% to 96.7%.
  • All identified variants, except c.*22A>C, showed no statistically significant difference in frequency compared to controls.

Conclusions:

  • Genetic screening of the INS gene did not reveal a significant association with PNDM in this cohort of Egyptian infants.
  • The findings suggest that INS gene mutations are unlikely to be a primary cause of PNDM in this population.
  • Further research may be needed to explore other genetic factors contributing to PNDM in Egypt.
Abstract

Keywords:
DNA sequencinginsulin (INS) genemutationspermanent neonatal diabetes (PND)

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