Journal
NATURE GENETICS
Volume 48, Issue 2, Pages 144-151Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3474
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Funding
- Foundation Fighting Blindness Center [C-GE-0811-0548-RAD04]
- Netherlands Organization for Scientific Research Vidi Innovational Research Award [016.096.309]
- Nederlandse Oogonderzoek Stichting
- Diana Hermens Stichting
- Research Foundation-Flanders
- FWO Flanders grant [3G079711]
- Belgian Science Policy Office Interuniversity Attraction Poles programme [P7/43]
- Netherlands Organization for Scientific Research Vici Innovational Research Award [865.12.005]
- Foundation Fighting Blindness [C-CMM-0811-0546-RAD02]
- US Veterans Administration Medical Research Service grant
- Foundation Fighting Blindness Center Grant
- Research to Prevent Blindness
- US National Institutes of Health (NIH)
- National Eye Institute [EY016501]
- US NIH National Cancer Institute [P30CA034196]
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Butterfly-shaped pigment dystrophy is an eye disease characterized by lesions in the macula that can resemble the wings of a butterfly. Here we report the identification of heterozygous missense mutations in the CTNNA1 gene (encoding alpha-catenin 1) in three families with butterfly-shaped pigment dystrophy. In addition, we identified a Ctnna1 missense mutation in a chemically induced mouse mutant, tvrm5. Parallel clinical phenotypes were observed in the retinal pigment epithelium (RPE) of individuals with butterfly-shaped pigment dystrophy and in tvrm5 mice, including pigmentary abnormalities, focal thickening and elevated lesions, and decreased light-activated responses. Morphological studies in tvrm5 mice demonstrated increased cell shedding and the presence of large multinucleated RPE cells, suggesting defects in intercellular adhesion and cytokinesis. This study identifies CTNNA1 gene variants as a cause of macular dystrophy, indicates that CTNNA1 is involved in maintaining RPE integrity and suggests that other components that participate in intercellular adhesion may be implicated in macular disease.
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