Leber congenital amaurosis 10
Leber congenital amaurosis 10 is an autosomal recessive disorder caused by mutations of the CEP290 gene.
Chang B et. al. (2006) In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.[^]
den Hollander AI et. al. (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.[^]
Cideciyan AV et. al. (2007) Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.[^]
McEwen DP et. al. (2007) Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.[^]
Papon JF et. al. (2010) Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.[^]