LIANG-IN LINCHEN-HSUAN LIUYAO-CHANG CHENMING-CHING SHENCHING-HUA WANGHuang Y.-L.Lin J.-K.2021-12-012021-12-011997-050007-1048https://scholars.lib.ntu.edu.tw/handle/123456789/589403Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by deficient biosynthesis of the glycosyl phosphatidylinositol (GPI) anchor in haemopoietic stem cells. PIG-A, an X-linked gene that participates in the first step of GPI-anchor synthesis, is responsible for PNH. Various abnormalities of the PIG-A gene have been demonstrated in all patients with PNH so far examined. In this study we characterized the somatic mutations in PIG-A gene in four Taiwanese patients with PNH. We identified five novel mutations in the PIG-A gene, three single nucleotide substitution mutations (-342, C-->G, codon 335, GGT-->AGT and codon 405, GCT-->GTT) and two frameshift mutations (codon 22, GGA-->G-A and codon 356, TGT-->TGTT) in the PIG-A gene. The -342 mutation was judged to be a polymorphism. Furthermore, three patients had previous clinicopathologic evidence which suggested aplastic anaemia (AA), before the development of PNH. One of these was found to have thrombocytopenia during follow-up. We suggest that the somatic PIG-A gene mutations highlight a subgroup of AA having a pathogenetic link with PNH.enaplastic anaemia | glycosylphosphatidylinositol (GPI) anchor | paroxysmal nocturnal haemoglobinuria | PIG-A genejournal article10.1046/j.1365-2141.1997.442690.x91635892-s2.0-0031007363https://scholars.lib.ntu.edu.tw/handle/123456789/502727