A Variant-Specific Mutational Effect
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published in the European Journal of Human Genetics.