Journal
NATURE GENETICS
Volume 44, Issue 9, Pages 972-974Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2370
Keywords
-
Categories
Funding
- Foundation Fighting Blindness (FFB)
- 985 Project Grant from the Ministry of Education of China
- Qiangjiang Research Talent grant [2006R10018]
- Science and Technology Department of Zhejiang Province
- Natural Science Foundation of Zhejiang Province [R2100439]
- Oregon Health & Science University [IRB00008083]
Ask authors/readers for more resources
Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507G > A, p.Trp169*) and missense (c.769G > A, p.Glu257Lys) mutations in NMNAT1, which encodes an enzyme in the nicotinamide adenine dinucleotide (NAD) biosynthesis pathway implicated in protection against axonal degeneration. We also found NMNAT1 mutations in ten other individuals with LCA, all of whom carry the p.Glu257Lys variant.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available