Table 1 Comparison of the clinical features observed in our patient with those previously documented in individuals with a PUF60 gene variant.
Clinical phenotypes | Present case | Previous reported cases with PUF60 variants (n = 56) |
|---|---|---|
Auditory | - | 16/40 (40%) |
Cardiac | + | 31/52 (60%) |
Coloboma | - | 19/49 (38%) |
Developmental delay | + | 49/54 (90%) |
Genital | + | 5/25 (20%) |
Stool difficulties | + | 2/10 (20%) |
Hand analomies | - | 26/49 (53%) |
Joint laxity/dislocation | - | 17/43 (40%) |
Laryngeal | + | 2/2 (100%) |
Ocular | - | 29/48 (60%) |
Oral/Palatal deformities | - | 16/32 (50%) |
Renal | + | 11/47 (23%) |
Vertebral | + | 30/50 (60%) |
