Table 1 Overview of the four individuals with Marshall–Stickler syndrome
From: Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
Phenotype and genotype | Case 1 | Case 2 | Case 3 | Case 4 |
|---|---|---|---|---|
Gene | COL11A1 | COL11A1 | COL11A1 | COL2A1 |
Mutation | c.1845+1G>A | c.2808+1G>C | c.3816+1G>A | c.2710C>T |
Phenotype | ||||
Myopia | ++ | + | +++ | ++ |
Vitreoretinal degeneration | ++ | − | ++ | + |
Retinal detachment | ++ | − | − | − |
Cataracts | ++ | ++ | + | − |
Midfacial hypoplasia | + | +++ | +++ | +++ |
Micrognathia/retrognathia | + | ++ | ++ | − |
Cleft palate/bifid uvula | − | ++ | ++ | + |
Hearing loss | + | +++ | +++ | +++ |
Joint hypermobility | ++ | − | − | − |
Congenital heart defect | − | + | − | − |
Short stature | − | +++ | +++ | ++ |
Skeletal abnormalities | NA | NA | + | + |
