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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy |
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| Authors: | Isabelle Perrault Sylvain Hanein Xavier Zanlonghi Valérie Serre Michael Nicouleau Sabine Defoort-Delhemmes Nathalie Delphin Lucas Fares-Taie Sylvie Gerber Olivia Xerri Catherine Edelson Alice Goldenberg Alice Duncombe Gylène Le Meur Christian Hamel Eduardo Silva Patrick Nitschke Patrick Calvas Arnold Munnich Olivier Roche Hélène Dollfus Josseline Kaplan Jean-Michel Rozet |
| Institution: | 1] Department of Genetics, Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France. [2]. |
| Abstract: | 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. |
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