Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies-Reference-Cited by-同舟云学术

Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies

Published:2009-01-01 Issue:1 Volume:32 Page:123-125
ISSN:0149-5992
Container-title:Diabetes Care
language:en
Short-container-title:

Author:

Bonfanti Riccardo¹,Colombo Carlo²,Nocerino Valentina³,Massa Ornella²,Lampasona Vito⁴,Iafusco Dario⁵,Viscardi Matteo¹,Chiumello Giuseppe¹,Meschi Franco¹,Barbetti Fabrizio²³⁶

Affiliation:

1. Department of Pediatrics, San Raffaele Hospital and Scientific Institute, Milan, Italy

2. Laboratory of Molecular Endocrinology, Bambino Gesù Pediatric Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy

3. Laboratory of Molecular Endocrinology and Metabolism, San Raffaele Biomedical Park Foundation, Rome, Italy

4. Laboraf Diagnostica e Ricerca San Raffaele S.p.A., Milan, Italy

5. Second University of Naples, Naples, Italy

6. Department of Internal Medicine, University of Rome–Tor Vergata, Rome, Italy

Abstract

OBJECTIVE—Heterozygous, gain-of-function mutations of the insulin gene can cause permanent diabetes with onset ranging from the neonatal period through adulthood. The aim of our study was to screen for the insulin gene in patients who had been clinically classified as type 1 diabetic but who tested negative for type 1 diabetes autoantibodies. RESEARCH DESIGN AND METHODS—We reviewed the clinical records of 326 patients with the diagnosis of type 1 diabetes and identified seven probands who had diabetes in isolation and were negative for five type 1 diabetes autoantibodies. We sequenced the INS gene in these seven patients. RESULTS—In two patients whose diabetes onset had been at 2 years 10 months of age and at 6 years 8 months of age, respectively, we identified the mutation GB8S and a novel mutation in the preproinsulin signal peptide (ASignal23S). CONCLUSIONS—Insulin gene mutations are rare in absolute terms in patients classified as type 1 diabetic (0.6%) but can be identified after a thorough screening of type 1 diabetes autoantibodies.

Publisher

American Diabetes Association

Subject

Advanced and Specialized Nursing,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://diabetesjournals.org/care/article-pdf/32/1/123/600013/zdc00109000123.pdf

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