Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 10

Leber congenital amaurosis 10 is an autosomal recessive disorder caused by mutations of the CEP290 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
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Leber congenital amaurosis 09
Leber congenital amaurosis 10
CEP290
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References:

1.

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.

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2.

den Hollander AI et. al. (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

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3.

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.

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4.

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.

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5.

Papon JF et. al. (2010) Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

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Update: Sept. 26, 2018