Linking Genetics and Cognition: Analysis of a Novel Variant in the HECT and RLD Domain Containing E 3 Ubiquitin Protein Ligase 2 Gene

Genetic abnormalities within the HERC2 gene cause a group of illnesses known as HERC2-associated neurodevelopmental disorders (NDD). A ten-year-old boy who was referred to the genetic center for genetic investigation performed Whole-Exome Sequencing (WES). A comprehensive analysis was carried out using bioinformatics methods to obtain greater knowledge of the mutation's impact. A homozygous single nucleotide mutation (C>T) was detected at location c. 14215 in exon ninety-two of the HERC2 gene through WES data analysis. According to this study, a premature stop codon at position 4334 (p.Arg4334 Ter) was caused by the substitution of a stop codon with arginine within the Hect domain. The Exonic-Splicing-Enhancer (ESE) region in exon 42 is severely disrupted by this mutation, which may cause exon skipping and produce a truncated HERC2 protein with an incomplete HECT domain. Such variants may ultimately contribute to the underlying neural mechanisms that cause intellectual developmental disorders to become apparent.

Linking Genetics and Cognition: Analysis of a Novel Variant in the HECT and RLD Domain Containing E 3 Ubiquitin Protein Ligase 2 Gene Keywords:

HERC2 gene , Whole-Exome Sequencing , neurodevelopmental disorders