Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/86219
Title: | Screening for monogenic subtypes of gestational diabetes in a high prevalence island population : a whole exome sequencing study |
Authors: | Pace, Nikolai Paul Vella, Barbara Craus, Johann Caruana, Ruth Savona-Ventura, Charles Vassallo, Josanne |
Keywords: | Exomes Diabetes in pregnancy -- Malta Glucokinase Diabetes -- Etiology Diabetes -- Research |
Issue Date: | 2021-07 |
Publisher: | Wiley |
Citation: | Pace, N. P., Vella, B., Craus, J., Caruana, R., Savona‐Ventura, C., & Vassallo, J. (2021). Screening for monogenic subtypes of gestational diabetes in a high prevalence island population–A whole exome sequencing study. Diabetes/Metabolism Research and Reviews, e3486. |
Abstract: | Aims: The reported frequency of monogenic defects of beta cell function in gestational diabetes (GDM) varies extensively. This study aimed to evaluate the frequency and molecular spectrum of variants in genes associated with monogenic/atypical diabetes in non-obese females of Maltese ethnicity with GDM. Methods: 50 non-obese females who met the International Association of the Diabetes and Pregnancy Study Groups (IADPSG) criteria for diagnosis of GDM and with a first-degree relative with non-autoimmune diabetes were included in this study. Whole exome capture and high throughput sequencing was carried out. Rare sequence variants were filtered, annotated, and prioritised according to the American College for Medical Genetics guidelines. For selected missense variants we explored effects on protein stability and structure through in-silico tools. Results: We identified three pathogenic variants in GCK, ABCC8 and HNF1A and several variants of uncertain significance in the cohort. Genotype-phenotype correlations and post-pregnancy follow-up data are described. Conclusions: This study provides the first insight into an underlying monogenic aetiology in non-obese females with GDM from an island population having a high prevalence of diabetes. It suggests that monogenic variants constitute an underestimated cause of diabetes detected in pregnancy, and that careful evaluation of GDM probands to identify monogenic disease subtypes is indicated. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/86219 |
Appears in Collections: | Scholarly Works - FacM&SAna Scholarly Works - FacM&SMed |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Diabetes Metabolism Res - 2021 - Pace - Screening for monogenic subtypes of gestational diabetes in a high prevalence.pdf Restricted Access | 535.18 kB | Adobe PDF | View/Open Request a copy |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.