Targeted sequencing identifies novel variants in common and rare MODY genes.

ABSTRACT:

Background

Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have been screened for MODY, all using a candidate gene approach, with a high prevalence of undiagnosed cases (MODY-X).

Methods

We conducted a next-generation sequencing target panel (tNGS) study to investigate, for the first time, a Brazilian cohort of MODY patients with a negative prior genetic analysis. One hundred and two patients were selected, of which 26 had an initial clinical suspicion of MODY-GCK and 76 were non-GCK MODY.

Results

After excluding all benign and likely benign variants and variants of uncertain significance, we were a

SUBMITTER: de Santana LS 

PROVIDER: S-EPMC6900361 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature