RT Journal Article SR Electronic T1 Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1 JF Neurology Genetics JO Neurol Genet FD Lippincott Williams & Wilkins SP e631 DO 10.1212/NXG.0000000000000631 VO 7 IS 6 A1 Alison M.R. Castle A1 Smrithi Salian A1 Haim Bassan A1 Efrat Sofrin-Drucker A1 Raffaella Cusmai A1 Kristin C. Herman A1 Delphine Heron A1 Boris Keren A1 Devon L. Johnstone A1 Wendy Mears A1 Susanne Morlot A1 Thi Tuyet Mai Nguyen A1 Rachel Rock A1 Elliot Stolerman A1 Julia Russo A1 William Boyce Burns A1 Julie R. Jones A1 Valentina Serpieri A1 Hannah Wallaschek A1 Ginevra Zanni A1 David A. Dyment A1 Philippe M. Campeau YR 2021 UL http://ng.neurology.org/content/7/6/e631.abstract AB Background and Objectives To expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency.Methods An international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and neuroimaging data were collected for comparison. Where possible, GPI-anchored proteins were assessed using flow cytometry.Results Ten novel variants were identified in 7 patients. Flow cytometry samples of 3 available patients confirmed deficiency of several GPI-anchored proteins on leukocytes. Extensive phenotypic information was available for each patient. The majority experienced developmental delay, seizures, and hypotonia. Neuroimaging revealed cerebellar anomalies in the majority of the patients. Alkaline phosphatase was within the normal range in 5 individuals and low in 1 individual, as has been noted in other transamidase defects. We notably describe individuals either less affected or older than the ones published previously.Discussion Clinical features of the cases reported broaden the spectrum of the known phenotype of GPAA1-related GPI deficiency, while outlining the importance of using functional studies such as flow cytometry to aid in variant classification.AP=anchored protein; ALP=alkaline phosphatase; FLAER=fluorescein-labeled proaerolysin; GPI=glycosylphosphatidylinositol; WES=whole-exome sequencing