CEP290 and Down syndrome: To date, variants of CEP290 have been demonstrated with several genetic disorders more than JBST5, such as Leber congenital amaurosis (LCA10, OMIM#611755) [17], Meckel syndrome type 4 (MKS4, OMIM#611134) [21, 22], and Bardet-Biedl syndrome 14 (BBS14, OMIM#615991) [23, 24].