{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhao JJ"],"funding":["Medicinska Forskningsrådet","Deutsche Forschungsgemeinschaft","European Research Council","Föreningen Margarethahemmet","Regionala forskningsrådet","Sävstaholm Society"],"pagination":["1394-1401"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6180480"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["38(10)"],"pubmed_abstract":["Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability (ID), seizures, and facial dysmorphism. Here, we present two siblings with ID, cerebellar hypoplasia, cerebellar ataxia, early-onset seizures, and minor facial dysmorphology. Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178.1:c.1640G>A, p.Trp547*) in the gene Phosphatidylinositol Glycan Anchor Biosynthesis, Class G (PIGG) in both the patients. Variants in several other GPI anchor synthesis genes lead to a reduced expression of GPI-anchored proteins (GPI-APs) that can be measured by flow cytometry. No"],"journal":["Human mutation"],"pubmed_title":["Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function."],"pmcid":["PMC6180480"],"funding_grant_id":["DFG KR 3985/7-3","282330"],"pubmed_authors":["Baeck P","Thuresson AC","Zhao JJ","Halvardson J","Krawitz PM","Feuk L","Knaus A","Georgii-Hemming P"],"additional_accession":[]},"is_claimable":false,"name":"Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.","description":"Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability (ID), seizures, and facial dysmorphism. Here, we present two siblings with ID, cerebellar hypoplasia, cerebellar ataxia, early-onset seizures, and minor facial dysmorphology. Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178.1:c.1640G>A, p.Trp547*) in the gene Phosphatidylinositol Glycan Anchor Biosynthesis, Class G (PIGG) in both the patients. Variants in several other GPI anchor synthesis genes lead to a reduced expression of GPI-anchored proteins (GPI-APs) that can be measured by flow cytometry. No","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Oct","modification":"2026-04-30T22:47:26.818Z","creation":"2026-04-07T16:26:12.156Z"},"accession":"S-EPMC6180480","cross_references":{"pubmed":["28581210"],"doi":["10.1002/humu.23268"]}}