Table 1.
Genes known to cause telomeropathies when defective, as well as the telomere-related processes and protein complexes in which they are involved
Process/protein complexGenesTelomeropathies
Telomerase core components TERC             DC, IPF, aplastic anemia, liver disease 
 TERT             DC, HHS, IPF, aplastic anemia, liver disease 
Telomerase biogenesis DKC1             DC, HHS, IPF, aplastic anemia 
 NOP10             DC, IPF, aplastic anemia 
 NHP2             DC, IPF, aplastic anemia 
Telomerase trafficking TCBA1             DC 
Shelterin components TIN2             DC, HHS 
 TPP1             DC, HHS, aplastic anemia 
Telomeric DNA synthesis RTEL1             HHS, IPF 
 CTC1             DC 
TERC RNA processing PARN             DC, IPF 
 NAF1             IPF 
Process/protein complexGenesTelomeropathies
Telomerase core components TERC             DC, IPF, aplastic anemia, liver disease 
 TERT             DC, HHS, IPF, aplastic anemia, liver disease 
Telomerase biogenesis DKC1             DC, HHS, IPF, aplastic anemia 
 NOP10             DC, IPF, aplastic anemia 
 NHP2             DC, IPF, aplastic anemia 
Telomerase trafficking TCBA1             DC 
Shelterin components TIN2             DC, HHS 
 TPP1             DC, HHS, aplastic anemia 
Telomeric DNA synthesis RTEL1             HHS, IPF 
 CTC1             DC 
TERC RNA processing PARN             DC, IPF 
 NAF1             IPF 

The diseases found associated with the mutated genes are indicated (Calado et al., 2009a; Holohan et al., 2014; Glousker et al., 2015; Stanley and Armanios, 2015; Stanley et al., 2016).

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