Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
Katelynn M WiltonLauren B GundersonLinda HasadsriChristopher P WoodLisa A SchimmentiPublished in: Molecular genetics & genomic medicine (2020)
Given the phenotype and genotype consistent with a deficiency in TRAPPC9, it is likely that this patient represents a novel case of this rare genetic syndrome. Specifically, this case, in the context of 48 total reported patients, raises questions as to the geographic origin of the pathologic variant and optimal detection and therapeutic intervention for this condition.
Keyphrases
- intellectual disability
- autism spectrum disorder
- end stage renal disease
- case report
- randomized controlled trial
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- neoadjuvant chemotherapy
- gene expression
- squamous cell carcinoma
- radiation therapy
- copy number
- replacement therapy
- patient reported
- quantum dots
- sensitive detection