Table 1.
Clinical Findings of the Present Subjects with DDX58-Related Disease Phenotypes
|
Family A |
Family B |
Total n/Na(%) from This Study | Total n/Na(%) from Feigenbaum et al.2 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| II:6 | III:7 | III:1 | III:2 | IV:1 | IV:2 | IV:3 | IV:4 | II:4 | III:2 | IV:3 | |||
| Gender | female | male | female | male | female | female | male | female | female | female | female | NA | NA |
| Current age (years) | 56 | 22 | 35 | 33 | 16 | 14 | 8 | 5 | 61 | 38 | 20 | NA | NA |
| Glaucomab | + | + | + | − | + | + | + | + | + | + | + | 10/11 (91) | 5/10 (50) |
| Age at glaucoma diagnosisc (years) | 6 | 3 | 18 | − | 6 | 4 | 4 | 2 | 10 | 3 | 5 | NA | NA |
| Intraocular pressured (mmHg, right/left) | ND | ND | ND | ND | 32/30 | 30/32 | 29/38 | 38/34 | ND | ND | ND | NA | NA |
| Short stature | − | − | − | − | − | − | + | + | − | − | − | 2/11 (18) | 6/9 (67) |
| Aortic and valvular calcification | + | + | + | + | ND | ND | ND | ND | +/−e | − | − | 5/7 (71) | 10/11 (91) |
| Cardiac arrhythmia | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 6/11 (55) |
| Osteopenia | − | − | ND | − | ND | ND | − | − | + | − | − | 1/8 (13) | 9/10 (90) |
| Acro-osteolysis or tuft erosion of distal phalanx | + | + | ND | + | ND | ND | + | + | + | + | + | 8/8 (100) | 6/9 (67) |
| Wide medullary cavities in the phalanges | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 9/10 (90) |
| Subungal calcifications | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 3/8 (38) |
| Tendon rupture | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 6/11 (55) |
| Joint subluxation | − | − | − | − | − | − | − | − | + | − | − | 1/11 (9) | 8/9 (89) |
| Thick neurocranium | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 8/9 (89) |
| Scoliosis | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 3/10 (30) |
| Dental problemsf | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 10/11 (91) |
| Unusual faceg | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 7/7 (100) |
| Weakness or hypotonia | − | − | − | − | − | − | − | − | − | − | − | 0/11 (0) | 8/10 (80) |
| Psoriasiform rash | − | +h | − | + | + | + | + | + | − | − | + | 7/11 (64) | 8/9 (89) |
Abbreviations are as follows: NA, not applicable; ND, no data.
n/N indicates the number of positive individuals out of the total number of examined individuals.
Glaucoma was diagnosed when intraocular pressure was higher than 21 mmHg in at least one eye before treatment in the presence of optic nerve head change.
Age at onset of glaucoma could not be estimated exactly.
The intraocular pressure was measured by either Goldmann tonometry or Perkins applanation tonometry before treatment. Except for four individuals (IV:1, IV:2, IV:3, and IV:4) in family A, other family members with glaucoma were already managed with surgical intervention at the time of visit in our hospital.
This person had small calcifications in the aortic arch and abdominal aorta, but the causes were nonspecific given her age.
Dental problems in individuals II:6 and III:7 from family A were assessed by an orthopantomogram performed by a dentist. Other subjects were confirmed with a physical examination.
Symptoms included a high hair line, a broad forehead, mild ptosis, a smooth philtrum, and a thin upper vermilion.
The skin lesion was confirmed as psoriasiform rash by skin biopsy. Other individuals were evaluated by physical examination.