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Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care
(Clinical Medicine, 2014-04-01)Increasing technological advances have resulted in the recognition of a range of genetic conditions not traditionally seen by clinical genetics teams. This has implications for the education of other healthcare professionals ... -
Most people with long-duration type 1 diabetes in a large population-based study are insulin microsecretors
(Diabetes Care, 2015-02-01)OBJECTIVE: Small studies using ultrasensitive C-peptide assays suggest endogenous insulin secretion is frequently detectable in patients with long-standing type 1 diabetes (T1D), but these studies do not use representative ... -
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation
(Diabetes Care, 2015-07)Glucokinase-maturity-onset diabetes of the young (GCK-MODY), also known as MODY2, is caused by heterozygous inactivating mutations in the GCK gene. GCK gene mutations are present in approximately 1 in 1,000 of the population, ... -
Psychiatric morbidity in children with KCNJ11 neonatal diabetes.
(Wiley, 2016-04-18)Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic KATP channel, cause neonatal diabetes. KCNJ11 is also expressed in the brain, and ~ 20% of those affected have neurological features, which ... -
Type 1 Diabetes Genetic Risk Score: a novel tool to discriminate monogenic and type 1 diabetes.
(American Diabetes Association, 2016-04-05)Distinguishing patients with monogenic diabetes from Type 1 diabetes (T1D) is important for correct diagnosis, treatment and to select patients for gene discovery studies. We assessed whether a T1D genetic risk score ... -
Urinary C-peptide creatinine ratio detects absolute insulin deficiency in Type 2 diabetes.
(Wiley, 2013-11)To determine the prevalence and clinical characteristics of absolute insulin deficiency in long-standing Type 2 diabetes, using a strategy based on home urinary C-peptide creatinine ratio measurement. -
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
(BMJ, 2014-03)Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal ... -
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
(BMJ, 2014-03)Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal ...