Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.

Details

Serval ID
serval:BIB_D3DBA904770F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.
Journal
Swiss medical weekly
Author(s)
Kherra S., Blouin J.L., Santoni F., Schwitzgebel V.
ISSN
1424-3997 (Electronic)
ISSN-L
0036-7672
Publication state
Published
Issued date
2017
Peer-reviewed
Oui
Volume
147
Pages
w14535
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
Monogenic diabetes (MD) accounts for 1-2% of all diabetes cases. Because of its wide phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a survey among clinicians specialising in diabetes to document the cases with MD. Of 74 clinically suspected MD patients, 46% had undergone genetic analysis, which was mostly conducted using Sanger's classical sequencing method. The most common recorded mutations were located in the GCK gene, followed by the mitochondrial genome (m.3243A>G mutation) and the HNF1B and HNF1A genes. The remaining 54% of patients only had a clinical diagnosis, mostly because genetic analysis was not easily accessible. Here, we designed a new diagnostic panel of 42 genes that was developed based on the survey. The panel was validated with an independent sample of nine known MD patients. Our survey confirms the need for a comprehensive analytical instrument for the diagnosis of MD, which will be met by the proposed panel. The diagnosis of MD is crucial because it dictates treatment and may improve metabolic control and reduce long-term complications as proposed by precision medicine.
Keywords
Diabetes Mellitus/diagnosis, Diabetes Mellitus/genetics, Genetic Testing/methods, Germinal Center Kinases, Humans, Mutation, Precision Medicine, Protein Serine-Threonine Kinases/genetics, Surveys and Questionnaires
Pubmed
Web of science
Open Access
Yes
Create date
20/05/2019 13:52
Last modification date
22/07/2023 6:58
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