Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

G Alkorta-Aranburu, D Carmody, YW Cheng… - Molecular genetics and …, 2014 - Elsevier
Single gene mutations that primarily affect pancreatic β-cell function account for
approximately 1–2% of all cases of diabetes. Overlapping clinical features with common …

Genetics of monogenic diabetes: present clinical challenges

S Misra, KR Owen - Current diabetes reports, 2018 - Springer
Abstract Purpose of Review Monogenic forms of diabetes have specific treatments that differ
from the standard care provided for type 1 and type 2 diabetes, making the appropriate …

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

S Ellard, H Lango Allen, E De Franco, SE Flanagan… - Diabetologia, 2013 - Springer
Aims/hypothesis Current genetic tests for diagnosing monogenic diabetes rely on selection
of the appropriate gene for analysis according to the patient's phenotype. Next-generation …

Many faces of monogenic diabetes

VM Schwitzgebel - Journal of diabetes investigation, 2014 - Wiley Online Library
Monogenic diabetes represents a heterogeneous group of disorders resulting from defects
in single genes. Defects are categorized primarily into two groups: disruption of β‐cell …

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

V Bansal, J Gassenhuber, T Phillips, G Oliveira… - BMC medicine, 2017 - Springer
Background Diagnosis of monogenic as well as atypical forms of diabetes mellitus has
important clinical implications for their specific diagnosis, prognosis, and targeted treatment …

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

M Vaxillaire, A Bonnefond, P Froguel - Best practice & research Clinical …, 2012 - Elsevier
Monogenic diabetes consists of different subtypes of single gene disorders comprising a
large spectrum of phenotypes, namely neonatal diabetes mellitus or monogenic diabetes of …

Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of maturity-onset diabetes of the young

K Colclough, S Ellard, A Hattersley, K Patel - Diabetes, 2022 - Am Diabetes Assoc
At present, outside of infancy, genetic testing for monogenic diabetes is typically for
mutations in maturity-onset diabetes of the young (MODY) genes that predominantly result in …

The application of precision medicine in monogenic diabetes

F Barbetti, N Rapini, R Schiaffini, C Bizzarri… - Expert Review of …, 2022 - Taylor & Francis
Introduction Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a
single gene and may account for 1–2% of all clinical forms of diabetes. To date, more than …

Monogenic diabetes: a gateway to precision medicine in diabetes

H Zhang, K Colclough, AL Gloyn… - The Journal of clinical …, 2021 - Am Soc Clin Investig
Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Monogenic diabetes

A Bonnefond, R Unnikrishnan, A Doria… - Nature Reviews …, 2023 - nature.com
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …