Article
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Human mutation - 1 Aug 2013
Rice Gillian I, Reijns Martin A M, Coffin Stephanie R, Forte Gabriella M A, Anderson Beverley H, Szynkiewicz Marcin, Gornall Hannah, Gent David, Leitch Andrea, Botella Maria P, Fazzi Elisa, Gener Blanca, Lagae Lieven, Olivieri Ivana, Orcesi Simona, Swoboda Kathryn J, Perrino Fred W, Jackson Andrew P, Crow Yanick J
Abstract excerpt
Aicardi-Goutières syndrome is an inflammatory disorder resulting from mutations in TREX1, RNASEH2A/2B/2C, SAMHD1, or ADAR1. Here, we provide molecular, biochemical, and cellular evidence for the pathogenicity of two synonymous variants in RNASEH2A. Firstly, the c.69G>A (p.Val23Val) mutation causes the formation of a splice donor site within exon 1, resulting in an out of frame deletion at the end of exon 1,...
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