Article
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Human mutation - 1 Jun 2018
Pagnamenta Alistair T, Murakami Yoshiko, Anzilotti Consuelo, Titheradge Hannah, Oates Adam J, Morton Jenny, Kinoshita Taroh, Kini Usha, Taylor Jenny C
Abstract excerpt
Defective glycosylphosphatidylinositol (GPI)-anchor biogenesis can cause a spectrum of predominantly neurological problems. For eight genes critical to this biological process, disease associations are not yet reported. Scanning exomes from 7,833 parent-child trios and 1,792 singletons from the DDD study for biallelic variants in this gene-set uncovered a rare PIGH variant in a boy with epilepsy, microcephaly,...
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