TABLE 1.
Main clinical features in patients with FAM111B variants reported in literature
| Mercier et al., 2015 | Seo et al., 2016 | Takeichi et al., 2017 | Goussot et al., 2017 | Zhang et al., 2019 | Chen et al., 2019 | Dokic et al., 2020 | Roversi et al., 2021 (present report) | Total N = 31 | ||
|---|---|---|---|---|---|---|---|---|---|---|
| N = 14 | N = 7 | N = 1 | N = 4 | N = 2 | N = 1 | N = 1 | N = 1 | |||
| Main clinical features | Poikiloderma | 14 | 7 | 1 | 4 | 2 | 1 | 1 | 1 | 31(100%) |
| Tendon contractures | 9 | 6 | 0 | 4 | 1 | 0 | 0 | 1 | 21 (68%) | |
| Myopathy | 8 | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 10 (32%) | |
| Pulmonary fibrosis | 9 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 10 (32%) | |
|
Exocrine pancreatic insufficiency |
4 | 5 | 0 | 3 | 0 | 0 | 0 | 0 | 12 (39%) | |
| Pancreas cancer | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 2 (6%) | |
| Liver involvement | 4 | 4 | 0 | 1 | 1 | 0 | 1 | 1 | 12 (39%) | |
| Lymphedema | 7 | 7 | 0 | 3 | 0 | 0 | 0 | 1 | 18 (58%) |
Note: Patients of different ages were grouped in a single table. Pulmonary fibrosis was assesed at radiological and functional test. Myopathy was assessed at MR or biopsy.