The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

ABSTRACT:

Background

Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on sulfonylurea treatment for most patients with potassium channel mutations. We investigated the effect of early, comprehensive testing of all known genetic causes of neonatal diabetes.

Methods

In this large, international, cohort study, we studied patients with neonatal diabetes diagnosed with diabetes before 6 months of age who were referred from 79 countries. We identified mu

SUBMITTER: De Franco E 

PROVIDER: S-EPMC4772451 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature