Table 1.
List of primary telomeropathies caused by defects in the telomere maintenance machinery listing the defective gene(s), complexes involved and potentially other causative candidate genes.
| Primary Telomeropathy | Defective Gene | Process/Complex | Other Candidate Genes |
|---|---|---|---|
| DKC/HHS/Revesz Syndrome | TIN2 | Shelterin, inhibits TRF1 PARsylation, TRF1 regulation | TERF1, TERF2, RAP1, TPP1, POT1, TNKS1, TNKS1BP1 |
| DKC/HHS | RTEL1 | T-loop dissociation, target of cytosolic iron-sulfur protein assembly (CIA) complex | MMS19, MIP18, CIAO1,IOP1 |
| Coats Plus Syndrome | CTC1 | CST complex | STN1, TEN1 |
| HHS | Apollo | Overhang processing | TERF2, FANCD2 |
| IPF, DKC, Aplastic Anemia | TERT, TERC, DKC1, NHP2, NOP10 | Telomerase | GAR1 |
| DKC | TCAB1 | Cajal body, telomerase assembly | Collin, HOT1 |
| DKC/IPF | PARN | DNA damage responses, reduced RNA ofTERC, DKC1, RTEL1, TERF1 | TERF1 |