Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.

ABSTRACT:

Background

We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample of 509 unrelated adults with type 2 diabetes and 459 controls, all belonging to the DMS1 SIGMA-cohort (ExAC). We performed in silico analysis on missense variants using Variant Effect Predictor software. To evaluate co-segregation, predicted pathogenic variants were genotyped in other family members. We performed molecular dynamics analysis for the co-segregating variants.

Results

After filtering, Mendelian genotypes were confirmed in two probands bearing two novel variants, p.Arg252His and p.Lys68Gln. Both variants co-segregated with the AOMS3 phenotype i

SUBMITTER: Mendoza-Caamal EC 

PROVIDER: S-EPMC8247206 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature