title: A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.
abstract: Early-onset epileptic encephalopathies (EOEEs) are severe and intractable infantile-onset epilepsies with progressive intellectual disability and other associated neurologic comorbidities. Whole-exome sequencing (WES) was recently used to determine the causative gene mutations in individuals with unclassified EOEEs. The present study used WES to determine the causative variant in a family with X-linked, EOEE. One potential variant (c. 427A>G, NM_002641.3; p.Lys143Glu, NP_002632.1) of the gene encoding phosphatidylinositol glycan biosynthesis class A protein (PIGA; PIGA) was found, which was verified by Sanger sequencing. The functional effect of this PIGA mutation was assessed by the surface expression levels of glycosylphosphatidylinositol-anchored proteins on blood cells: CD16 on red blood cells was significantly decreased in the proband (by 11.0%) and his mother (by 15.6%). This is the second report of a less-severe form of PIGA deficiency.
authors.affiliation: Department of Pediatrics, Chonnam National University Medical School, Gwangju, Republic of Korea. Electronic address: ik052@jnu.ac.kr.
authors.forename: Young Ok
authors.initials: YO
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Jae Hyuk
authors.initials: JH
authors.lastname: Yang
authors.affiliation: School of Biological Sciences and Technology, Chonnam National University, Gwangju, Republic of Korea.
authors.forename: Chungoo
authors.initials: C
authors.lastname: Park
authors.affiliation: Department of Radiology, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Seul Kee
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Department of Neurology, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Myeong-Kyu
authors.initials: MK
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Myung-Geun
authors.initials: MG
authors.lastname: Shin
authors.affiliation: Department of Pediatrics, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Young Jong
authors.initials: YJ
authors.lastname: Woo
mesh_terms: D002648:Child; D004831:Epilepsies, Myoclonic / Q000235:genetics; D005190:Family; D017809:Fatal Outcome; D058851:GPI-Linked Proteins / Q000097:blood; D060005:Genotyping Techniques; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D017452:Receptors, IgG / Q000097:blood; D013036:Spasms, Infantile / Q000097:blood / Q000235:genetics* / Q000628:therapy
chemical_list: C428200:FCGR3B protein, human; D058851:GPI-Linked Proteins; D008565:Membrane Proteins; D017452:Receptors, IgG; C080086:phosphatidylinositol glycan-class A protein
keywords: Epileptic encephalopathy; Focal seizure; Genetics; Infant; PIGA