Molecular characteristics
C11ORF46 or ARL14EP (ADP Ribosylation Factor-Like GTPase 14 Effector Protein) gene is located at 11p14.1 and encodes a protein that interacts with ARL14, MYO1E, and beta-actin (ACTB). It may play a role in controlling the export of MHC class II molecules by connecting to the actin network via ARL14EP-MYO1E. Moreover, the encoded protein is selectively expressed in the immune system.
Mutations and pathophysiology
Shaheen R et al. (2016) identified a homozygous missense mutation in C11ORF46 (NM_152316.2:c.653G>A; p.Gly218Glu). The affected individual had the phenotypical features described in the Professionals – Clinical characteristics section.
Dr. Amal Alhashem from Prince Sultan Military Medical City in Riyadh, Saudi Arabia, identified four additional individuals with features consistent with the disorder. All of the affected patients had c.653G>A; p.Gly218Glu mutation.