A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition

@inproceedings{Stockklausner2015ANA,
  title={A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition},
  author={Clemens Stockklausner and Simon Raffel and Julia Klermund and Obul Reddy Bandapalli and Fabian Beier and Tim Henrik Br{\"u}mmendorf and Friederike Buerger and Sven Wolfgang Sauer and Georg Friedrich Hoffmann and Holger Lorenz and Laura Tagliaferri and Daniel Nowak and Wolf-Karsten Hofmann and Rebecca Buergermeister and Carolin Kerber and Tobias Rausch and Jan O. Korbel and Brian Luke and Andreas Trumpp and Andreas E Kulozik},
  booktitle={Aging},
  year={2015}
}
The TERT gene encodes for the reverse transcriptase activity of the telomerase complex and mutations in TERT can lead to dysfunctional telomerase activity resulting in diseases such as dyskeratosis congenita (DKC). Here, we describe a novel TERT mutation at position T1129P leading to DKC with progressive bone marrow (BM) failure in homozygous members of a consanguineous family. BM hematopoietic stem cells (HSCs) of an affected family member were 300-fold reduced associated with a significantly… CONTINUE READING