Table 1.

Telomere-related genes currently linked to familial pulmonary fibrosis. Six telomere-related genes have been linked to familial pulmonary fibrosis (FPF): TERT [30], TERC [58], DKC1 [59], TINF2 [60], RTEL1 [61], and PARN [62], although TERT mutations are most frequent, occurring in approximately 15% those with affected kindreds [63].

Gene	Name	Function
TERT	Telomerase reverse transcriptase	Encodes the protein subunit of telomerase (hTERT)
TERC	Telomerase RNA component	Encodes the RNA subunit of telomerase (hTR)
DKC-1	Dyskerin pseudouridine synthase 1	Active role in telomerase stabilisation
TINF2	TRF1 (Telomerase repeat factor 1) interacting nuclear factor 2	Provides instructions of making part of the shelterin protein complex
RTEL1	Regulator of telomere elongation helicase 1	Encodes a DNA helicase that helps stabilize telomeres during RNA replication
PARN	Poly(A) specific ribonuclease	Involved in TERC RNA maturation