biostudies-literatureBasu MKHL144552-01A1NHLBI NIH HHSU.S. Department of Health and Human Services, National Institutes of Health, National Heart, Lung, and Blood InstituteHL115187506-517https://www.ebi.ac.uk/biostudies/studies/S-EPMC8091491biostudies-literatureUnknown121(4)<h4>Background</h4> Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal blood disorder, resulting from autoantibodies against ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13). However, the mechanism underlying anti-ADAMTS13 autoantibody formation is not known, nor it is known how genetic aberrations contribute to the pathogenesis of iTTP.<h4>Methods</h4> Here we performed whole exome sequencing (WES) of DNA samples from 40 adult patients with iTTP and 15 local healthy subjects with no history of iTTP and other hematological disorders.<h4>Results</h4> WES revealed variations in the genes involved in protein glycosylation, including O-linked glycosylation, to be a major pathway affected in patients with iTTP. Moreover,Thrombosis and haemostasisExome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.PMC8091491R01 HL115187HL144552-01A1R01 HL164016U.S. Department of Health and Human Services, National Institutes of Health, National Heart, Lung, and Blood InstituteR01 HL144552HL115187R01 HL126724Pillai VMassicano FYu LCao WBasu MKHalkidis KZheng LZheng XLfalseExome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.<h4>Background</h4> Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal blood disorder, resulting from autoantibodies against ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13). However, the mechanism underlying anti-ADAMTS13 autoantibody formation is not known, nor it is known how genetic aberrations contribute to the pathogenesis of iTTP.<h4>Methods</h4> Here we performed whole exome sequencing (WES) of DNA samples from 40 adult patients with iTTP and 15 local healthy subjects with no history of iTTP and other hematological disorders.<h4>Results</h4> WES revealed variations in the genes involved in protein glycosylation, including O-linked glycosylation, to be a major pathway affected in patients with iTTP. Moreover,2021-01-01T00:00:00Z2021 Apr2026-05-08T02:36:24.812Z2024-11-15T17:55:53.957ZS-EPMC80914913318480310.1055/s-0040-1719030