A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting from Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant

Erin Conboy, Paige I. Partain, Deepti Warad, Michelle L. Kluge, Carola Arndt, Dong Chen, Vilmarie Rodriguez

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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 languageEnglish (US)
Pages (from-to)60-62
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume40
Issue number1
DOIs
StatePublished - 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

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