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

ABSTRACT:

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 sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes.

Methods

We selected 29 genes in which mutations have been reported to cause neonatal diabetes, MODY, maternally inherited diabetes and deafness (MIDD) or familial partial lipodystrophy (FPLD). An exon-capture assay was designed to include coding regions and splice sites. A total of 114 patient samples were tested--32 with known mutations and 82 previously tested for MODY (n = 33) or neo

SUBMITTER: Ellard S 

PROVIDER: S-EPMC3737433 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature