Table 1 Comparison of the phenotypes of previously reported individuals with neonatal progeroid syndrome (or Wiedemann–Rautenstrauch syndrome) and biallelic variants in POLR3A, the three individuals with POLR3GL hyperostosis-oligodontia in the spectrum of POLR3-related leukodystrophies, and finally the individual reported here with a biallelic nonsense variant in POLR3GL
Clinical features | (Ref 5) n = 1 | (Ref 1) n = 10 | (Ref 7) n = 7 | (Ref 8) n = 3 | Total for POLR3A neonatal progeroid syndrome n = 21 | POLR3GL hyperostosis-oligodontia [16] n = 3* | POLR3GL neonatal progeroid syndrome variant |
|---|---|---|---|---|---|---|---|
Intrauterine growth retardation | + | 8/10 | 7/7 | 3/3 | 18/20 (90%) | 0/3 | + |
Short stature | NA | 6/7 | 3/4 | 2/2 | 11/13 (85%) | 3/3 | + |
Prominent forehead | + | 9/9 | 6/7 | 3/3 | 19/20 (95%) | 0/3 | + |
Prominent scalp veins | + | 9/9 | 6/7 | 3/3 | 19/20 (95%) | 0/3 | + |
Sparse scalp hair | + | 9/9 | 5/7 | 2/3 | 17/20 (85%) | 0/3 | – |
Large or persistent fontanel | NA | 10/10 | 1/7 | NA | 11/17 (65%) | 0/3 | + |
Triangular face | + | 9/10 | 4/7 | 3/3 | 18/21 (86%) | 0/3 | + |
Natal teeth | + | 10/10 | 6/7 | 1/3 | 19/21 (90%) | 0/3 | – |
Hypodontia | NA | 8/8 | 4/7 | 2/2 | 14/17 (82%) | 3/3 | + |
Lipodystrophy | + | 10/10 | 7/7 | 3/3 | 21/21 (100%) | 0/3 | – |
Contractures | + | NA | 3/7 | 2/3 | 6/11 (55%) | 0/3 | + (at birth) |
Developmental delay/intellectual disability | NA | 6/8 | 2/7 | NA | 8/15 (53%) | 0/3 (motor only 3/3) | + |
Hypotonia | NA | 2/9 | NA | NA | 2/9 (22%) | 2/3 | + |
Hypertonia | NA | 6/9 | NA | NA | 6/9 (67%) | 1/3 | – |
Endosteal sclerosis | – | 0/10 | 0/7 | 0/3 | 0/21 (0%) | 3/3 | – |
Pulmonary hypertension | – | 0/10 | 0/7 | 0/3 | 0/20 (0%) | 0/3 | + |
Bronchopulmonary dysplasia | – | 0/10 | 0/7 | 0/3 | 0/20 (0%) | 0/3 | + |
Hemangioma | – | 0/10 | 0/7 | 0/3 | 0/20 (0%) | 0/3 | + |
