Bioinformatics Analysis and Implications for Intellectual Developmental Disorders

HERC۲-related neurodevelopmental disorders (NDD) comprise a set of medical conditions caused by genetic mutations in the HERC۲ gene. Whole exome sequencing (WES) was conducted on a ten-year-old male patient who was referred to the genetic center for genetic evaluation. Additionally, a comprehensive analysis utilizing bioinformatics tools was carried out to gain deeper insights into the effects of the mutation. The analysis of WES data revealed a homozygous single nucleotide change (C>T) at position c.۱۴۲۱۵ in exon ninety-two of the HERC۲ gene. This study demonstrated that the substitution of arginine with a stop codon within the HECT domain leads to a premature stop codon at position ۴۷۳۹ (p.Arg۴۷۳۹Ter). Consequently, this mutation results in the generation of a truncated HERC۲ protein that lacks a complete HECT domain. The identification of a novel pathogenic variant in exon ninety-two of the HERC۲ gene is significant, as it is linked to an autosomal recessive inheritance pattern in cases of intellectual developmental disorder (IDD). This variant may ultimately be involved in the mechanisms underlying the onset of IDD.

کلیدواژه ها:

HERC۲ gene ، HECT domain ، intellectual developmental disorder ، Whole exome sequencing