Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta

ConclusionGiven 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.

Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Katelynn M. Wilton, Lauren B. Gunderson, Linda Hasadsri, Christopher P. Wood, Lisa A. Schimmenti Tags: CLINICAL REPORT Source Type: research