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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole TM Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, Wanda Hicks, Minzhong Yu, Lanying Shi, Lucy Rowe, Gayle B Collin, Jeremy R Charette, Stef J Letteboer, et al.
(2016) NATURE GENETICS. 48(2). p.144-151
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Abstract
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.
Keywords
MACULAR DEGENERATION, AGE-RELATED MACULOPATHY, PATTERN DYSTROPHY, ALPHA-CATENIN, RETINITIS-PIGMENTOSA, PERIPHERIN/RDS GENE, MOUSE MODEL, RDS GENE, CELLS, CADHERIN

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Chicago
Saksens, Nicole TM, Mark P Krebs, Frederieke E Schoenmaker-Koller, Wanda Hicks, Minzhong Yu, Lanying Shi, Lucy Rowe, et al. 2016. “Mutations in CTNNA1 Cause Butterfly-shaped Pigment Dystrophy and Perturbed Retinal Pigment Epithelium Integrity.” Nature Genetics 48 (2): 144–151.
APA
Saksens, N. T., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., et al. (2016). Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. NATURE GENETICS, 48(2), 144–151.
Vancouver
1.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, et al. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. NATURE GENETICS. 2016;48(2):144–51.
MLA
Saksens, Nicole TM et al. “Mutations in CTNNA1 Cause Butterfly-shaped Pigment Dystrophy and Perturbed Retinal Pigment Epithelium Integrity.” NATURE GENETICS 48.2 (2016): 144–151. Print.
@article{7135458,
  abstract     = {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.},
  author       = {Saksens, Nicole TM and Krebs, Mark P and Schoenmaker-Koller, Frederieke E and Hicks, Wanda and Yu, Minzhong and Shi, Lanying and Rowe, Lucy and Collin, Gayle B and Charette, Jeremy R and Letteboer, Stef J and Neveling, Kornelia and van Moorsel, Tamara W and Abu-Ltaif, Sleiman and De Baere, Elfride and WALRAEDT, SOPHIE and Banfi, Sandro and Simonelli, Francesca and Cremers, Frans PM and Boon, Camiel JF and Roepman, Ronald and Leroy, Bart and Peachey, Neal S and Hoyng, Carel B and Nishina, Patsy M and den Hollander, Anneke I},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keywords     = {MACULAR DEGENERATION,AGE-RELATED MACULOPATHY,PATTERN DYSTROPHY,ALPHA-CATENIN,RETINITIS-PIGMENTOSA,PERIPHERIN/RDS GENE,MOUSE MODEL,RDS GENE,CELLS,CADHERIN},
  language     = {eng},
  number       = {2},
  pages        = {144--151},
  title        = {Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity},
  url          = {http://dx.doi.org/10.1038/ng.3474},
  volume       = {48},
  year         = {2016},
}
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