Table 1.
Overview of demographic features and clinical manifestations of patients with compound heterozygous RNU7-1 mutations. M, male; F, female; A, alive; D, deceased; U, unknown; + , present; -, absent
| P1 | P2 | P3 | Other RNU7-1 patients (n = 16) [7] | |
|---|---|---|---|---|
| Demographics | ||||
| Current age (y) | 2 | 3 | 19 | 9 (2–23) |
| Sex | M | F | M | 9 M / 7 F |
| Survival | A | A | D | 9 A / 7 D |
| Neurological features (19/19, 100%) | ||||
| Irritability, feeding difficulties, failure to thrive | + | - | + | 7/16 (44%) |
| Psychomotor retardation | + | + | + | 16/16 (100%) |
| Spasticity/hypertonia | + | + | + | 16/16 (100%) |
| Microcephaly | - | - | + | 3/16 (19%) |
| Epilepsy | + | - | + | 3/16 (19%) |
| Sensory neuropathy | - | - | - | 4/16 (25%) |
| Nystagmus | - | - | - | 1/16 (6%) |
| Neuroimaging (19/19, 100%) | ||||
| Leukodystrophy | - | + | + | 12/16 (75%) |
| Intracranial calcifications | + | + | + | 13/16 (81%) |
| Cerebral atrophy | + | + | + | 7/16 (44%) |
| Lenticulostriate vasculopathy | + | - | - | 0/16 (0%) |
| Ischemic stroke | + | - | - | 0/16 (0%) |
| Abnormal myelination | + | + | + | 4/16 (25%) |
| Cystic lesions | - | - | - | 1/16 (6%) |
| Kidney disease (8/19, 42%) | ||||
| Renal insufficiency | - | - | + | 5/16 (31%) |
| Proteinuria | - | - | + | 2/16 (13%) |
| Thrombotic microangiopathy | - | - | + | 1/16 (6%) |
| Echogenic kidneys | U | U | - | 1/16 (6%) |
| Glomerulosclerosis | U | U | + | 1/16 (6%) |
| Cysts | U | U | + | 1/16 (6%) |
| Hematuria | - | - | - | 1/16 (6%) |
| Liver disease (10/19, 53%) | ||||
| Transaminitis | - | + | - | 8/16 (50%) |
| Hepatomegaly | - | - | - | 2/16 (13%) |
| Edema and hypoalbuminemia | - | - | - | 2/16 (13%) |
| Steatosis/fibrosis | U | U | - | 2/16 (13%) |
| Skin manifestations (9/19, 47%) | ||||
| Livedo reticularis | - | - | - | 2/16 (13%) |
| Acrocyanosis | - | - | - | 2/16 (13%) |
| Plantar erythema | - | - | + | 0/16 (0%) |
| Dry skin | + | - | - | 2/16 (13%) |
| Chilblains | - | - | - | 2/16 (13%) |
| Poikiloderma | - | - | - | 1/16 (6%) |
| Other | ||||
| Arterial hypertension | - | - | + | 6/16 (38%) |
| Optic atrophy | - | - | U | 2/16 (13%) |
| Hypothyroidism | - | - | - | 5/16 (31%) |
| Pericardial effusion | U | U | + | 4/16 (25%) |
| Anemia | - | - | + | 4/16 (25%) |
| Recurrent urinary tract infections | - | - | + | 2/16 (13%) |
| Pancreatitis | - | - | - | 1/16 (6%) |
| Osteoporosis with fractures | - | - | - | 1/16 (6%) |
| Cryptorchidism | - | - | + | 0/16 (0%) |
| Micropenis | - | - | - | 1/16 (6%) |
| Scoliosis | - | - | - | 1/16 (6%) |
| Hypospadias | + | - | - | 0/16 (0%) |
| Chronic conjunctivitis | - | - | + | 0/16 (0%) |
| Synovitis | - | - | + | 0/16 (0%) |