Article
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Human genetics - 1 Sept 2019
Ceroni Fabiola, Aguilera-Garcia Domingo, Chassaing Nicolas, Bax Dorine Arjanne, Blanco-Kelly Fiona, Ramos Patricia, Tarilonte Maria, Villaverde Cristina, da Silva Luciana Rodrigues Jacy, Ballesta-Martínez Maria Juliana, Sanchez-Soler Maria Jose, Holt Richard James, Cooper-Charles Lisa, Bruty Jonathan, Wallis Yvonne, McMullan Dominic, Hoffman Jonathan, Bunyan David, Stewart Alison, Stewart Helen, Lachlan Katherine, Fryer Alan, McKay Victoria, Roume Joëlle, Dureau Pascal, Saggar Anand, Griffiths Michael, Calvas Patrick, Ayuso Carmen, Corton Marta, Ragge Nicola K
Abstract excerpt
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following...
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