{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["4(22)"],"submitter":["Langemeijer S"],"pubmed_abstract":["Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell (HSC) disorder characterized by defective synthesis of the glycosylphosphatidylinositol (GPI) anchors as a result of somatic mutations in the X-linked PIGA gene. The disease is acquired. No constitutional PNH has been described. Here, we report familial PNH associated with unusual inflammatory symptoms. Genetic analysis revealed a germline heterozygous PIGB mutation on chromosome 15 without mutations in PIGA or any of the other genes involved in GPI biosynthesis. In vitro data confirmed that transfection of the mutant PIGB could not restore the surface expression of GPI-anchored proteins (APs) in PIGB-deficient Chinese hamster ovary cells. Homozygosity was caused by copy number-neutral loss of heterozygosity (CN-LO"],"journal":["Blood advances"],"pagination":["5755-5761"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7686886"],"repository":["biostudies-literature"],"pubmed_title":["Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kbp microdeletion on 15q."],"pmcid":["PMC7686886"],"pubmed_authors":["Preijers F","Murakami Y","Blijlevens N","Inoue N","Muus P","Kinoshita T","Schaap C","Langemeijer S","Jansen JH"],"additional_accession":[]},"is_claimable":false,"name":"Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kbp microdeletion on 15q.","description":"Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell (HSC) disorder characterized by defective synthesis of the glycosylphosphatidylinositol (GPI) anchors as a result of somatic mutations in the X-linked PIGA gene. The disease is acquired. No constitutional PNH has been described. Here, we report familial PNH associated with unusual inflammatory symptoms. Genetic analysis revealed a germline heterozygous PIGB mutation on chromosome 15 without mutations in PIGA or any of the other genes involved in GPI biosynthesis. In vitro data confirmed that transfection of the mutant PIGB could not restore the surface expression of GPI-anchored proteins (APs) in PIGB-deficient Chinese hamster ovary cells. Homozygosity was caused by copy number-neutral loss of heterozygosity (CN-LO","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2025-04-19T14:56:09.252Z","creation":"2025-04-19T14:56:09.252Z"},"accession":"S-EPMC7686886","cross_references":{"pubmed":["33216889"],"doi":["10.1182/bloodadvances.2020002210"]}}