Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.

ABSTRACT:

Background

Intellectual disability (ID) affects 1-3% of the world population. The number of genes whose dysfunctions cause intellectual disability is increasing. In addition, new gene associations are constantly being discovered, as well as specific phenotypic features for already identified genetic alterations are being described. The aim of our study was to search for pathogenic variants in genes responsible for moderate to severe intellectual disability and epilepsy, using a panel of targeted next-generation sequencing (tNGS) for diagnosis.

Methods

The group of 73 patients (ID, n=32; epilepsy, n=21; ID and epilepsy, n=18) was enrolled in the nucleus DNA (nuDNA) study using a tNGS panel (Agilent Technologies, USA). In addition, high coverage mitochondrial DNA (mtDNA) was e

SUBMITTER: Skoczylas S 

PROVIDER: S-EPMC10545623 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature