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I Perrault S Hanein X Zanlonghi V Serre M Nicouleau S Defoort-Delhemmes N Delphin L Fares-Taie S Gerber O Xerri C Edelson A Goldenberg A Duncombe G Le Meur C Hamel E Silva P Nitschke P Calvas A Munnich O Roche H Dollfus J Kaplan JM Rozet 《Nature genetics》2012,44(9):975-977
In addition to its activity in nicotinamide adenine dinucleotide (NAD(+)) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity-induced degeneration. Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. Their clinical presentation is consistent with Leber congenital amaurosis and suggests that the mutations affect neuroprotection of photoreceptor cells. 相似文献
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