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Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.

Abstract：

:Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare, recessively inherited genetic disorder with varying clinical presentation that is caused by ADAMTS13 mutations. Several studies have found limited associations between ADAMTS13 mutations and cTTP phenotype. The use of in silico tools that examine multiple mutation characteristics may better predict phenotype. We analysed 118 ADAMTS13 mutations found in 144 cTTP patients reported in the literature and examined associations of several mutation characteristics, including N-terminal proximity, the evolutionary conservation of the affected amino acid position, as well as amino acid charge/phosphorylation and genetic codon usage to disease phenotype. Structure-altering mutations were examined for their impact on ADAMTS13 function based on existing ADAMTS13 crystallographic data (AA 77-685). Our in silico data indicate that: (i) The position of the mutation in the N- or C-terminus, (ii) evolutionary conservation and (iii) codon usage of the affected mutation position are associated with disease parameters, such as age of onset, organ damage and fresh frozen plasma prophylaxis. In conclusion, the usage of multiple in silico tools presents a promising strategy in refining predictions for the diverse presentation of cTTP. Enhancing our utilization of in silico tools to find genotype-phenotype associations will create better-tailored approaches for individual patient treatment.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Hing ZA,Schiller T,Wu A,Hamasaki-Katagiri N,Struble EB,Russek-Cohen E,Kimchi-Sarfaty C

doi

10.1111/bjh.12214

subject

Has Abstract

pub_date

2013-03-01 00:00:00

pages

825-37

issue

6

eissn

0007-1048

issn

1365-2141

journal_volume

160

pub_type

杂志文章

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