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Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.

  • Manukjan G Institute of Experimental Biomedicine, Chair I, University Hospital Würzburg, Würzburg, Germany.
  • Bösing H Institute of Experimental Biomedicine, Chair I, University Hospital Würzburg, Würzburg, Germany.
  • Schmugge M Kinderspital Zürich, Zürich, Switzerland.
  • Strauß G Department of Paediatric Haematology and Oncology, Helios-Klinikum Buch, Berlin, Germany.
  • Schulze H Institute of Experimental Biomedicine, Chair I, University Hospital Würzburg, Würzburg, Germany.
  • 2017-09-01
Published in:
  • British journal of haematology. - 2017
bone marrow failure
genetics
haematopoiesis
thrombocytopenia
thrombocytopenia-absent radii syndrome
5' Untranslated Regions
Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 1
Cohort Studies
Congenital Bone Marrow Failure Syndromes
Female
Genetic Variation
Hematopoiesis
Humans
Infant
Infant, Newborn
Introns
Male
Platelet Count
Polymorphism, Single Nucleotide
RNA-Binding Proteins
Radius
Thrombocytopenia
Upper Extremity Deformities, Congenital
Young Adult
English 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 RBM8A gene and a single nucleotide polymorphism (SNP) either at the 5' untranslated region (5'UTR) or within the first intron of RBM8A. Although phenotypically readily diagnosed after birth, the genetic determination of particular SNPs 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.
Language
  • English
Open access status
bronze
Identifiers
Persistent URL
https://sonar.ch/global/documents/284566
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