Abstract

Insulin gene mutation (INS) is the second most common cause of permanent neonatal diabetes (PNDM). We present the 1st cases of Saudi monozygotic twins with permanent neonatal diabetes mellitus who had simultaneous onset of disease due to p.C109Y (p.Cys109Tyr, c.326G>A) heterozygous missense mutation in exon 3 of the insulin (INS) gene. The twin patients had the same mutation while their parents are unaffected with normal genetic testing suggesting that this mutation had raised de novo. This p.C109Y mutation affects a highly conserved cysteine residue which is crucial for protein folding. Subjects with this form of diabetes will need lifelong insulin therapy.

Highlights

  • Neonatal diabetes mellitus (NDM) was previously defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks

  • Neonatal diabetes mellitus due to insulin gene mutation constitutes around 10-15% of all Permanent neonatal diabetes mellitus (PNDM) in some reports [3,9,19,20], while in others it reached up to 20% as in the ISPAD cohort compared with 4% for ABCC8 and 35% for KCNJ11 mutations [3]

  • Compared to K-ATP channel mutations, cases with INS mutations have a later presentation of diabetes [3]

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Summary

Introduction

Neonatal diabetes mellitus (NDM) was previously defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks. We here in report the first cases of PNDM due to INS heterozygous mutation from Saudi Arabia in 15 years-old identical twin females, born to non-consanguineous parents. Genetic tests for mutations in the gene subunits of the ATP-sensitive potassium channel, which are commonly associated with NDM, were negative.

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