Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Caroline Van CauwenberghFrauke CoppietersDimitri RoelsSarah De JaegereHelena FliptsJulie De ZaeytijdSophie WalraedtCharlotte ClaesErik FransenGuy Van CampFanny DepasseIngele CasteelsThomy de RavelBart P LeroyElfride De Baere

Published in: PloS one (2017)

Overall, we identified mutations in 48 of 86 Belgian adRP cases (56%), with the highest prevalence in RHO (14%), RP1 (10.5%) and PRPF31 (10.5%). Finally, we expanded the molecular spectrum of PRPH2, PRPF8, RHO, RP1, SNRNP200, and TOPORS-associated adRP by the identification of 17 novel mutations.

Keyphrases

risk factors
protein kinase
smooth muscle
gene expression
single molecule
dna methylation