A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.

ABSTRACT:

Background

The chromodomain helicase DNA-binding protein 2 (CHD2) is a member of the ATP-dependent chromatin remodelling family of proteins, which are critical for the assembly and regulation of chromatin. De novo variants and deletions in the CHD2 gene have been associated with childhood-onset developmental and epileptic encephalopathies type 94 (DEE 94). This study reports a novel deleterious de novo heterozygous frameshift insertion variant in the CHD2 gene.

Methods

The causative variant was diagnosed using whole-exome sequencing. Sanger sequencing and cosegregation analysis were applied to confirm the candidate variant. Multiple in silico analysis tools were employed to interpret the variant using the American College of Medical Genetics and Genomics and the Association

SUBMITTER: Mir A 

PROVIDER: S-EPMC10767600 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature