التفاصيل البيبلوغرافية
| العنوان: |
Novel INS Mutation in the C-Peptide Region Causing Hyperproinsulinemic Maturity Onset Diabetes of Youth Type 10. |
| المؤلفون: |
Schlegel, Amnon, Petersen, Whitney C, Holbrook, Alexandra A, Iverson, Leslie K, Graham, Timothy E |
| المصدر: |
Laboratory Medicine; May2023, Vol. 54 Issue 3, p327-332, 6p |
| مصطلحات موضوعية: |
BLOOD sugar analysis, INSULIN therapy, GLYCOSYLATED hemoglobin, BIOCHEMISTRY, GENETIC mutation, HYPERGLYCEMIA, BLOOD sugar monitoring, GLYCEMIC control, HYPERINSULINISM, GENETIC testing, DIFFERENTIAL diagnosis, INSULIN, TYPE 2 diabetes, PROINSULIN, METFORMIN, C-peptide, PHENOTYPES |
| مستخلص: |
Monogenetic diabetes mellitus (DM) describes a collection of single-gene diseases marked by hyperglycemia presenting in childhood or adulthood and the absence of immunological markers of type 1 DM. Mutations in the human insulin gene INS give rise to two separate clinical syndromes: permanent neonatal DM, type 4 (PNDM4), and maturity-onset diabetes of youth, type 10 (MODY10); the former presents shortly after birth and the latter presents in childhood and adulthood. We describe a 40-year-old man in a kindred with high prevalence of DM who presented with severe hyperglycemia but not ketoacidosis or hypertriglyceridemia. Twelve years after initial presentation, the patient had elevated proinsulin and normal plasma C-peptide when nearly euglycemic on treatment with insulin glargine. A novel INS mutation, Gln65Arg, within the C-peptide region was identified. The INS (p.Gln65Arg) mutation may cause MODY10 by disrupting proinsulin maturation. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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