{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pagnamenta AT"],"funding":["National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["669-679"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5477361"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(6)"],"pubmed_abstract":["Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder. We searched for variants in 31 genes linked to GPI-anchor biogenesis and detected rare biallelic variants in PGAP3, PIGN, PIGT (n=2), PIGO and PIGL, providing a likely diagnosis for six families. In five families, the variants were in a compound "],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders."],"pmcid":["PMC5477361"],"funding_grant_id":["090532/Z/09/Z","WT098051"],"pubmed_authors":["Murakami Y","Taylor JC","Mansour S","Temple IK","Pagnamenta AT","DDD Study","Firth R","Miller V","Tadros S","Popitsch N","Harrison RE","Anzilotti C","Johnson DS","Taylor JM","Howard MF","Kini U","Rosser E","Kinoshita T","Kerr B"],"additional_accession":[]},"is_claimable":false,"name":"Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.","description":"Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder. We searched for variants in 31 genes linked to GPI-anchor biogenesis and detected rare biallelic variants in PGAP3, PIGN, PIGT (n=2), PIGO and PIGL, providing a likely diagnosis for six families. In five families, the variants were in a compound ","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Jun","modification":"2026-05-04T16:22:23.99Z","creation":"2019-03-27T02:48:01Z"},"accession":"S-EPMC5477361","cross_references":{"pubmed":["28327575"],"doi":["10.1038/ejhg.2017.32"]}}