Submitted: 04 Aug 2020
Accepted: 12 Oct 2020
ePublished: 30 Oct 2020
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J Nephropharmacol. 2021;10(2): e17.
doi: 10.34172/npj.2021.17
  Abstract View: 234
  PDF Download: 79

Case Report

ADAMTS13 gene; a novel splicing site mutation in a case with thrombotic thrombocytopenic purpura

Sepideh Zununi Vahed 1 ORCID logo, Alessandra Cremaschi 2, Behzad Zaker 1, Seyed Sadroddin Rasi Hashemi 1, Mohammadreza Ardalan 1 * ORCID logo

1 Kidney Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
2 Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Bergamo, Italy
*Corresponding author: Prof. Mohammadreza Ardalan, Email: ardalan34@yahoo.com, ardalanm@tbzmed.ac.ir


A plasma protease, ADAMTS13, cleaves the von Willebrand factor (VWF) and its deficiency is associated with the pathogenesis of thrombotic thrombocytopenic purpura (TTP). According to the Human Gene Mutation Database (HGMD), about 150 mutations have been identified in the ADAMTS13 gene. A 23-year-old man, with hematuria and gingival bleeding was admitted to our University Hospital. Four years ago he was diagnosed with a TTP history. During these years, he was under intermittent plasma exchange. A blood sample was taken for genetic study. He effectively responded to one session of fresh frozen plasma replacement and plasma exchange. Genetic study indicated that this case carries two heterozygous mutations in ADAMTS13 gene; a novel splicing variant (c.2610+5G>A) and a nonsense p.Arg910X mutation that previously is reported to relate to TTP. The novel variant predicted to result in an aberrant ADAMTS13 transcript processing.
Keywords: TTP, ADAMTS13, Gene polymorphism, Von Willebrand factor, Plasmapheresis

Implication for health policy/practice/research/medical education:

The c.2728C>T (p.Arg910X) mutation in ADAMTS13 gene was found in a patient with congenital TTP. Moreover, we found c.2610+5G>A mutation, a novel splicing variant, that affects exon 20 and encodes for the ADAMTS13’s thrombospondin type-1 fifth domain in this case. This novel variant expected to cause aberrant ADAMTS13 transcript processing.

Please cite this paper as: Zununi Vahed S, Cremaschi A, Zaker B, Rasi Hashemi SS, Ardalan M. ADAMTS13 gene; a novel splicing site mutation in a case with thrombotic thrombocytopenic purpura. J Nephropharmacol. 2021;10(2):e17. DOI: 10.34172/ npj.2021.17.

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