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Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome
Author(s) -
Manukjan Georgi,
Bösing Hendrik,
Schmugge Markus,
Strauß Gabriele,
Schulze Harald
Publication year - 2017
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.14913
Subject(s) - snp , single nucleotide polymorphism , tar (computing) , cohort , genetics , biology , medicine , immunology , gastroenterology , genotype , gene , computer science , programming language
Summary Thrombocytopenia absent radii ( TAR ) syndrome is clearly defined by the combination of radial aplasia and reduced platelet counts. The genetics of TAR syndrome has recently been resolved and comprises a microdeletion on Chromosome 1 including the RBM 8A gene and a single nucleotide polymorphism ( SNP ) either at the 5′ untranslated region (5′ UTR ) or within the first intron of RBM 8A . Although phenotypically readily diagnosed after birth, the genetic determination of particular SNP s in TAR syndrome harbours valuable information to evaluate disease severity and treatment decisions. Here, we present clinical data in a cohort of 38 patients and observed that platelet counts in individuals with 5′ UTR SNP are significantly lower compared to patients bearing the SNP in intron 1. Moreover, elevated haemoglobin values could only be assessed in patients with 5′ UTR SNP whereas white blood cell count is unaffected, indicating that frequently observed anaemia in TAR patients could also be SNP ‐dependent whereas leucocytosis does not correlate with genetic background. However, this report on a large cohort provides an overview of important haematological characteristics in TAR patients, facilitating evaluation of the various traits in this disease and indicating the importance of genetic validation for TAR syndrome.