Ling Hou1, Yue Du2. 1. Pediatric Nephrology Department, Shengjing Hospital of China Medical University, No.36 Sanhao Street Heping District, Shenyang, 110004, Liaoning, China. 2. Pediatric Nephrology Department, Shengjing Hospital of China Medical University, No.36 Sanhao Street Heping District, Shenyang, 110004, Liaoning, China. 1838907885@qq.com.
Abstract
BACKGROUND: Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative mutations in ADAMTS13 have been identified; however, only a few of them were detected in Chinese patients. CASE PRESENTATION: A 5-year-old Chinese boy presented with history of thrombocytopenic purpura, hemolytic anemia, and renal injury since the neonatal period. Gene analysis revealed two novel mutations in ADAMTS13: a missense mutation 332G > A (p:Gly111Glu) in exon4 and a nonsense mutation 3121C > T (p:Gln1041stop) in exon 24. Genetic analysis of his parents confirmed the heterozygous nature of the mutations. CONCLUSION: We report two novel mutations in ADAMTS13 (332G > A, 3121C > T) in a Chinese boy. These two mutations may lead to early onset of cTTP and severe symptoms.
BACKGROUND: Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative mutations in ADAMTS13 have been identified; however, only a few of them were detected in Chinese patients. CASE PRESENTATION: A 5-year-old Chinese boy presented with history of thrombocytopenic purpura, hemolytic anemia, and renal injury since the neonatal period. Gene analysis revealed two novel mutations in ADAMTS13: a missense mutation 332G > A (p:Gly111Glu) in exon4 and a nonsense mutation 3121C > T (p:Gln1041stop) in exon 24. Genetic analysis of his parents confirmed the heterozygous nature of the mutations. CONCLUSION: We report two novel mutations in ADAMTS13 (332G > A, 3121C > T) in a Chinese boy. These two mutations may lead to early onset of cTTP and severe symptoms.