The affected individuals have pathogenic variants in CHMP3 gene in homozygote state which normally encodes VPS24 protein. The recessive mode of inheritance means that affected individual inherited one copy from the father and the other from the mother. As a result, VPS24 protein levels is dramatically reduced and therefore a very important pathways essential for living multiple types of living cells called autophagy is disrupted and leads to damages viability of the cell and accelerate cell death.
CHMP3