Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

• Published in: American journal of human genetics Vol. 105; no. 2; pp. 395 - 402
• Main Authors: Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2019; Elsevier
• Subjects: Acyltransferases - genetics; Adolescent; Adult; Amino Acid Sequence; automated facial analysis; Brain Diseases - etiology; Brain Diseases - pathology; Child; Child, Preschool; deep phenotyping; epilepsy; Epilepsy - etiology; Epilepsy - pathology; Female; glycosylphosphatidylinositol; Glycosylphosphatidylinositols - biosynthesis; Glycosylphosphatidylinositols - deficiency; Glycosylphosphatidylinositols - genetics; GPIBD; Humans; Infant; Infant, Newborn; inherited GPI deficiency; Intellectual Disability - etiology; Intellectual Disability - pathology; Male; multicolor flow cytometry; Mutation; Pedigree; PIGU; Seizures - genetics; Seizures - pathology; Sequence Homology; Young Adult; epilepsy; PIGU; inherited GPI deficiency; automated facial analysis; multicolor flow cytometry; glycosylphosphatidylinositol; deep phenotyping; GPIBD

The glycosylphosphatidylinositol (GPI) anchor links over 150 proteins to the cell surface and is present on every cell type. Many of these proteins play crucial roles in neuronal development and function. Mutations in 18 of the 29 genes implicated in the biosynthesis of the GPI anchor have been iden...