Publication Type:

Journal Article

Source:

Journal of the Pancreas, Volume 9, Number 6, p.715-718 (2008)

URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-56849124394&partnerID=40&md5=6ba91b519e4e3da1104bcee1a85fd5e2

Keywords:

adult, amino acid substitution, article, case report, diabetes mellitus, Diagnosis, Differential, exon, family history, gene mutation, genetic association, genetic susceptibility, glibenclamide, glycemic control, heterozygote, human, Humans, hyperglycemia, infant, insulin, isophane insulin, male, missense mutation, newborn diabetes mellitus, prenatal period, preschool child, term birth

Abstract:

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 childhood-onset 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.

Notes:

cited By (since 1996)11

Cite this Research Publication

Aa Ahamed, Unnikrishnan, A. Ga, Pendsey, S. Sa, Nampoothiri, Sb, Bhavani, Na, Praveen, V. Pa, Kumar, Ha, Jayakumar, R. Va, Nair, Va, Ellard, Sc, and Edghill, E. Lc, “Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report”, Journal of the Pancreas, vol. 9, pp. 715-718, 2008.