ARV1 is inherited in an autosomal recessive manner, which means that both copies of the gene must carry the mutations for the disease to occur. Homozygous missense and splice site variants in ARV1 were described. Furthermore, DEE38 is thought to be a GP1-anchor synthesis disorder. Notable reduction in expression of GPI-anchored proteins was reported among probands with homozygous splice site variants in ARV1.
ARV1