Nichole Link

2 months ago | cell.com | Holly Thorpe |Brent S. Pedersen |Miranda Dietze |Nichole Link |Aaron R Quinlan |Joshua L. Bonkowsky | +2 more

KeywordsPIGAcongenital disorders of glycosylationDrosophilagenetic modifierGPI-anchor synthesisincomplete penetranceGet full text accessLog in, subscribe or purchase for full access. References1. Chow, C.Y.Bringing genetic background into focusNat. Rev. Genet. 2016; 17:63-642. Bayat, A. ∙ Knaus, A. ∙ Pendziwiat, M. ... Lessons learned from 40 novel PIGA patients and a review of the literatureEpilepsia. 2020; 61:1142-11553. Chang, I.J. ∙ He, M. ∙ Lam, C.T.Congenital disorders of glycosylationAnn. Transl. Med.

Aug 12, 2024 | biorxiv.org | Holly Thorpe |Brent S. Pedersen |Nichole Link |Miranda Dietze

AbstractLoss of function mutations in the X-linked PIGA gene lead to PIGA-CDG, an ultra-rare congenital disorder of glycosylation (CDG), typically presenting with seizures, hypotonia, and neurodevelopmental delay. We identified two brothers (probands) with PIGA-CDG, presenting with epilepsy and mild developmental delay. Both probands carry PIGAS132C, an ultra-rare variant predicted to be damaging.