Table 3 Spectrum of phenotypes observed in patients with telomeropathies and pathogenic TERTp variants
From: Pathogenic TERT promoter variants in telomere diseases
Age | Sex | TL | Primary diagnosis | Spectrum of phenotypes related to telomeropathies | ||||
|---|---|---|---|---|---|---|---|---|
Pulmonary fibrosis | Marrow failure | Liver disease | Isolated cytopenia | |||||
Patients | ||||||||
USP79 | 46 | M | <1st | IPF | x | x | ||
NIH20 | 61 | M | <1st | IPF | x | x | ||
NIH31 | 57 | F | <10th | IPF | x | x | x | |
NIH37 | 65 | F | <1st | IPF | x | |||
NIH43 | 24 | F | <1st | MAA | x | |||
NIH46 | 39 | M | <1st | IPF | x | x | xa | |
NIH53 | 30 | M | <1st | MAA | x | x | ||
NIH93 | 38 | M | <1st | MAA | x | x | ||
NIH98 | 25 | F | Normal | MAA | x | |||
Relatives | ||||||||
USP26 | 17 | M | <1st | Asymptomatic | x | |||
USP41 | 63 | M | Normal | Asymptomatic | ||||
NIH07 | 71 | M | <1st | Asymptomatic | ||||
NIH95 | 72 | F | <1st | Asymptomatic | ||||
NIH61 | 44 | F | <1st | MAA | x | |||
Frequency (%) | 36 | 50 | 42 | 7 | ||||
