Table 4 Genes coding for proteins involved in telomere biology and DNA repair in which rare variants were found in the different patients and clinical evolution
Patient | Telomere biology genes | DNA repair genes | Clinical evolution |
|---|---|---|---|
Pulmonary Fibrosis | |||
F001 | RTEL1 | BRCA2 | Deceased |
F010 | Stable | ||
F020 | RTEL1 | FANCM, RAD51C | Lung transplant |
F021 | FANCM | Deceased | |
F025 | Lung transplant | ||
F044 | ATM; RECQL4 | Disease progressing | |
F075* | TERT | N.D. | Deceased |
F106 | POT1 | BRCA1 | Lung transplant |
F120 | TERC, NHP2 | SLX4 | Deceased |
F179 | BRCA2 | Disease progressing | |
F185* | TERT | N.D. | Deceased |
F188 | RECQL4 | Disease progressing | |
F200 | NHP2 | ATR | Deceased |
F213 | Disease progressing | ||
F219 | TERT, CTC1, RTEL1 | FANCU | Deceased |
F220 | TERT | FANCA | Lung transplant |
F242 | Lung transplant | ||
F244 | ATR | Disease progressing. | |
F253 | TERC , CTC1 | RAD51, RAD51C | Deceased |
F382 | NBN | Disease progressing | |
F400* | TERT | N.D. | Waiting transplant |
Dyskeratosis/Aplastic anemia | |||
26 | DKC1 Ref 19 | Mre11A | Deceased |
36 | DKC1 Ref 19 | ATR, BRCA2 | Disease progressing |
44 | FANCF | Stable | |
47 | ATR, FANCD2, FANCL, RECQL4, SLX4 | Recovered | |
48 | WRN, | N.D. | |
52 | FANCM, BLM | HSC transplant | |
62 | SLX4 | HSC transplant | |
69 | ATM | Stable | |
86 | RECQL4 | Stable | |
90 | RTEL1 | BRCA2 | HSC transplant |
109 | ACD | SLX4, Rad51C | HSC transplant |
121 | ATM | HSC transplant | |
129* | TERT | N.D. | Deceased |
134 | ATR, Mre11A | Stable | |
145 | ACD | BRCA2, SLX4 | Deceased |
156* | TERC | N.D. | Deceased |
169 | FANCM | Deceased | |
181 | RECQL4 | Stable | |
196* | TERT | N.D. | Deceased |
198 | ATM, FANCL, PALB2, RAD50 | Disease progressing | |
204 | ATM, RECQL4 | Stable | |
205 | Stable | ||
211 | RTEL1 | PALB2 | HSC transplant |
223 | NHP2 | ATM | Stable |
263 | TERT, RTEL1 | BRCA2, SLX4 | HSC transplant |
282 | SLX4 | N.D. | |