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Updated: May 25, 2026

Neo-Islet Formation in Liver of Diabetic Mice by Helper-dependent Adenoviral Vector-Mediated Gene Transfer
Published on: October 10, 2012
Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene
Intza Garin1, Guiomar Perez de Nanclares, Elena Gastaldo
1Endocrinology and Diabetes Research Group, Hospital de Cruces, Universitat Politècnica de València/Euskal Herriko Unibertsitateko, Barakaldo, Bizkaia, Spain.
Background:
The aim of this study was to characterize the genetic etiology in a patient who presented with permanent neonatal diabetes at 2 months of age.
Methodology/Principal Findings:
Regulatory elements and coding exons 2 and 3 of the INS gene were amplified and sequenced from genomic and complementary DNA samples. A novel heterozygous INS mutation within the terminal intron of the gene was identified in the proband and her affected father. This mutation introduces an ectopic splice site leading to the insertion of 29 nucleotides from the intronic sequence into the mature mRNA, which results in a longer and abnormal transcript.
Conclusions/Significance:
This study highlights the importance of routinely sequencing the exon-intron boundaries and the need to carry out additional studies to confirm the pathogenicity of any identified intronic genetic variants.
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