Publications by authors named "Olga S Berseneva"
Article Synopsis
- Floating Harbor syndrome (FHS) is a very rare genetic disorder affecting over 100 people globally, caused by mutations in a specific gene, with limited knowledge on its pathogenesis and treatment effectiveness.
- A case study in Russia presented a male with typical symptoms of FHS, such as short stature and intellectual impairment, and demonstrated that growth hormone (GH) therapy led to modest growth improvements before puberty.
- Whole-exome sequencing identified a specific pathogenic mutation linked to FHS and suggested a new model explaining the nature of these mutations, as well as the observed inefficacy of GH treatment in patients with this syndrome.
Mol Med Rep
December 2019
Article Synopsis
- - The study investigated genetic variants responsible for monogenic diabetes in 60 Russian children diagnosed with non-type 1 diabetes before age 18, utilizing whole-exome sequencing across 35 genes associated with MODY and neonatal diabetes.
- - Researchers identified 38 genetic variants in 55% of patients, with a significant majority linked to MODY-related genes, particularly GCK, while a smaller group had variants in MODY-unrelated genes.
- - The findings suggest a high occurrence of various genetic variants, emphasizing the importance of starting monogenic diabetes diagnostics in Russian children with GCK testing, while also highlighting the effectiveness of whole-exome sequencing for identifying rare variants.
