Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 09

Leber congenital amaurosis 9 is an autosomal recessive disorder caused by mutations of the NMNAT1 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
Leber congenital amaurosis 02
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Leber congenital amaurosis 05
Leber congenital amaurosis 06
Leber congenital amaurosis 07
Leber congenital amaurosis 08
Leber congenital amaurosis 09
NMNAT1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
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Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

Keen TJ et. al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

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2.

Zhai RG et. al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.

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3.

Falk MJ et. al. (2012) NMNAT1 mutations cause Leber congenital amaurosis.

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4.

Perrault I et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

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5.

Koenekoop RK et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

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Update: Sept. 26, 2018