CEP290 and Joubert syndrome with oculorenal defect: CEP290 gene is located in the long arm (q) of chromosome 12.8 The CEP290 gene has 54 exons and encodes CEP290 (centrosomal protein of 290 kD) protein consisting of 2479 amino acids.8 Till date, more than 100 variants of CEP290 has been reported which mostly causes Leber congenital amaurosis 10 [MIM# 611755] and Joubert syndrome 5 [MIM# 610188].