Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay

The study revealed that compound heterozygous <i>TRAPPC9</i> gene variants cause developmental delay in a Chinese girl. These variants have been classified as having significant pathogenic effect according to the ACMG criteria, suggesting a recessive genetic pattern and highlighting the importance of prenatal testing for future offspring. Furthermore, our findings expand the genotype spectrum of the <i>TRAPPC9</i> gene, and provide more comprehensive information regarding genetic counseling for children experiencing developmental delay.