Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Issue 10 (11th August 2014) - Beck, Bodo B.
Abstract We describe a family with severe congenital retinal degeneration (LCA), Joubert syndrome and massively enlarged polycystic kidneys. It results from a homozygous missense mutation in POC1B, a gene essential for ciliogenesis, basal body and centrosome integrity. Knockdown in zebrafish evokes a corresponding ocular‐renal phenotype. In view of simultaneous studies reporting mutations in non‐syndromic cone‐rod dystrophy, our findings suggest that POC1B mutations may cause retinal ciliopathies of variable severity.