Anneke den Hollander, Patsy Nishina and colleagues report heterozygous missense mutations in CTNNA1 in three families with butterfly-shaped pigment dystrophy. Ctnna1-mutant mice display a similar phenotype and show increased cell shedding and large multinucleated cells in the retinal pigment epithelium, suggesting defects in intercellular adhesion and cytokinesis.
- Nicole T M Saksens
- Mark P Krebs
- Anneke I den Hollander
