The gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations