Abstract
We report a 9-year-old Chinese girl with congenital thrombotic thrombocytopenic purpura found to be a compound heterozygote for 2 pathogenic variants in the ADAMTS13 gene, including a novel variation. The girl suffered from recurrent, life-threatening episodes of thrombocytopenia and hemolysis, and laboratory testing showed ADAMST13 enzyme activity of <5%. Sequencing of the ADAMTS13 gene revealed a previously reported missense variant, c.1787C>T (p.Ala596Val), and a novel duplication defined as c.1007-1025dup19 (p.Asp343Leufs∗53); the duplication is predicted to result in a premature stop codon and protein truncation. We propose that this novel variant is partly responsible for the patient's early-onset and severe phenotype.
Original language | English (US) |
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Pages (from-to) | 60-62 |
Number of pages | 3 |
Journal | Journal of Pediatric Hematology/Oncology |
Volume | 40 |
Issue number | 1 |
DOIs | |
State | Published - 2018 |
Keywords
- ADAMTS13
- Congenital
- Mutation
- Pathogenic variant
- TTP
- Thrombotic thrombocytopenic purpura
- Upshaw-Schulman syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology