Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

  title={Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish},
  author={Samuel Morales-C{\'a}mara and Susana Alexandre-Moreno and Juan-Manuel Bonet-Fern{\'a}ndez and Raquel Atienzar-Aroca and Jos{\'e}-Daniel Aroca-Aguilar and Jes{\'u}s-Jos{\'e} Ferre-Fern{\'a}ndez and Carmen Mendez and Laura Morales and Laura Fern{\'a}ndez-S{\'a}nchez and Nicol{\'a}s Cuenca and Miguel Coca‐Prados and Jose Maria Martinez-de-la-Casa and Juli{\'a}n Garc{\'i}a-Feij{\'o}o and Julio Escribano},
Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected siblings who carried a low-frequency homozygous nonsense GUCA1C variant (c.52G > T/p.Glu18Ter/rs143174402). This gene encodes GCAP3, a member of the guanylate cyclase activating protein family, involved in phototransduction and with a potential role in… 

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