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Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

  • M. Rinelli
  • E. Bellacchio
  • F. Berardinelli
  • G. Pascolini
  • P. Grammatico
  • A. Sgura
  • A. P. Iori
  • L. Quattrocchi
  • A. Novelli
  • S. Majore
  • E. Agolini
Letter to the Editor
  • 51 Downloads

Dear Editor,

Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic blood disorders in which there is usually some form of aplastic anemia, associated with a family history of the same disorder. In addition, patients with IBMFS have a high risk of malignancies [ 1]. Some IBMFS have excessively short telomeres at the peripheral nucleated blood cell level, referred to as telomeropathies. The discovery of loss-of-function mutations in genes of telomerase complex ( TERC and TERT) established a genetic etiology for telomere attrition in these patients [ 2, 3]. Several TERC variants, more than 40 nucleotide changes and small deletions, in patients with bone marrow failure have been described [ 4]. TERCgene, encoding the RNA component of telomerase, spans 451 nucleotides and comprises one non-coding exon that contains several conserved regions essential for its stability. Vertebrate telomerase RNA is composed by four highly conserved structural regions: pseudoknot...

Notes

Compliance with ethical standards

Clinical investigations and genetic analyses were approved by the institutional scientific board of Bambino Gesù Children’s Hospital. Informed consent was obtained from the patient.

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Laboratory of Medical GeneticsBambino Gesù Children’s HospitalRomeItaly
  2. 2.Department of ScienceUniversity “Roma Tre”RomeItaly
  3. 3.Medical Genetics, Molecular Medicine DepartmentSapienza University of Rome San Camillo-Forlanini HospitalRomeItaly
  4. 4.Department of Cell Biotechnology and HematologySapienza–University of RomeRomeItaly

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