Table 1 Patient clinical presentations and HGD variants.
From: A novel deep intronic variant strongly associates with Alkaptonuria
Patient | 1 | 2 | 3 |
|---|---|---|---|
Age of onset | 13 y | Early childhood | 1.5 y |
Sex | Male | Female | Male |
Current age | 20 y | 12 y | 10 y |
Variant 1 | c.291 G > A p.(Trp97Ter) | c.473 C > T p.(Pro158Leu) | *c.1084 G > A p.(Gly362Arg) |
Variant 2 | *c.587 C > T p.(Thr196Ile) | *c.1031delG p.(Gly344AspfsTer25) | * c.16-2063 A > C p.Tyr5_Ile6insValTer17 |
Tyrosine | 58.3 | 91.1 | 52.7 |
Ochronosis | - | Sclera | - |
Arthralgia | - | Bilateral knees Right hip | Bilateral knees |
