Article
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
European journal of human genetics : EJHG - 1 Jun 2017
Pagnamenta Alistair T, Murakami Yoshiko, Taylor John M, Anzilotti Consuelo, Howard Malcolm F, Miller Venessa, Johnson Diana S, Tadros Shereen, Mansour Sahar, Temple I Karen, Firth Rachel, Rosser Elisabeth, Harrison Rachel E, Kerr Bronwen, Popitsch Niko, Kinoshita Taroh, Taylor Jenny C, Kini Usha
Abstract excerpt
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293...
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