Article
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
European journal of human genetics : EJHG - 1 Dec 2015
Bosch Daniëlle G M, Boonstra F Nienke, Kinoshita Taroh, Jhangiani Shalini, de Ligt Joep, Cremers Frans P M, Lupski James R, Murakami Yoshiko, de Vries Bert B A
Abstract excerpt
Homozygous variants in PGAP1 (post-GPI attachment to proteins 1) have recently been identified in two families with developmental delay, seizures and/or spasticity. PGAP1 is a member of the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway and defects in this pathway are a subclass of congenital disorders of glycosylation. Here we performed whole-exome sequencing in an individual with...
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