Table 1 Clinical features and mutations for thirty-one Chinese patients of Oculocutaneous albinism
From: Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
Patient NO | Gender | Age range (Years; A: 0–16, B: > 16) | Clinical diagnosis | Molecular diagnosis | Mutations | |
|---|---|---|---|---|---|---|
Paternal | Maternal | |||||
TYR | ||||||
 1 | F | A | OCA1A | OCA1A | c.896G > A (p.R299H) | c.896G > A (p.R299H) |
 2 | F | A | OCA1B | OCA1A | c.1199G > T(p.W400 L) | c.230G > A(p.R77Q) |
 3 | M | B | OCA1A | OCA1A | c.896G > A (p.R299H) | c.929dupC(p.R311Kfs) |
 4 | F | A | OCA1A | OCA1B | c.996G > A (p.M332I) | c.1265G > A (p.R422Q) |
 5 | F | A | OCA1A | OCA1A | c.230G > A (p.R77Q) | c.230G > A (p.R77Q) |
 6 | F | A | OCA1A | OCA1A | c.929dupC(p.R311Kfs) | c.929dupC(p.R311Kfs) |
 7 | M | A | OCA1A | OCA1A | c.346C > T (p.R116X) | c.346C > T (p.R116X) |
 8 | M | A | OCA1A | OCA1A | c.561_562insTTATTATGTGTCAAATTATCCCCCA(G190Cfs*12) | c.561_562insTTATTATGTGTCAAATTATCCCCCA(G190Cfs*12) |
OCA2 | ||||||
 9 | F | A | OCA1A | OCA2 | c.593C > T(p.P198L) | c.593C > T(p.P198L) |
 10 | F | A | OCA2 | OCA2 | c.808-3C > G | C.808-3C > G |
 11 | F | A | OCA2 | OCA2 | c.1327G > A (p.V443I) | c.1423A > C (p.T475P) |
 12 | F | A | OCA1A | OCA2 | c.1327G > A (p.V443I) | c.1363A > G (p.R455G) |
 13 | M | A | OCA2 | OCA2 | c.1139-1141delTGG | c.1327G > A (p.V443I) |
 14 | M | A | OCA1A | OCA2 | c.2195C > G (p.S732X) | c.593C > T (p.P198L) |
 15 | F | B | OCA2 | OCA2 | c.1560–1562 delCCT | c.2495A > C(p.H832P) |
 16 | F | A | OCA1B | OCA2 | c.1441G > A (p.A481T) | c.1182 + 1G > A |
 17 | M | A | OCA2 | OCA2 | c.808-3C > G | c.2363 T > C (p.S788 L) |
 18 | F | A | OCA2 | OCA2 | c.1832 T > C (p.L611P) | c.808-3C > G |
 19 | F | A | OCA1A | OCA2 | c.1832 T > C (p.L611P) | c.2359G > A (p.A787T) |
 20 | F | A | OCA1A | OCA2 | c.1832 T > C (p.L611P) | c.1349C > T (p.T450 M) |
 21 | F | A | OCA1A | OCA2 | c.1832 T > C (p.L611P) | c.1349C > T (p.T450 M) |
 22 | F | A | OCA1B | OCA2 | c.1832 T > C (p.L611P) | c.1832 T > C (p.L611P) |
 23 | M | A | OCA2 | OCA2 | c.1832 T > C (p.L611P) | c.1832 T > C (p.L611P) |
 24 | M | A | OCA2 | OCA2 | c.1832 T > C (p.L611P) | c.1832 T > C (p.L611P) |
 25 | F | A | OCA2 | OCA2 | c.1832 T > C (p.L611P) | c.2195C > G(p.S732X) |
 26 | F | A | OCA2 | OCA2 | c.1327G > A(p.V443I) | c.1832 T > C (p.L611P) |
 27 | F | A | OCA2 | OCA2 | c.808-3C > G | c.1832 T > C (p.L611P) |
 28 | M | A | OCA2 | OCA2 | c.808-3C > G | c.1832 T > C (p.L611P) |
 29 | M | A | OCA2 | OCA2 | c.1182 + 1G > A | c.1832 T > C (p.L611P) |
 30 | M | B | OCA2 | OCA2 | c.1001C > T(p.A334V) | c.1832 T > C (p.L611P) |
 31 | F | A | OCA2 | OCA2 | c.808-3C > G | c.632C > T(p.P211L) |
 32 | M | A | OCA2 | OCA2 | c.632C > T (p.P211L) | c.808-3C > G |
 33 | M | A | OCA1B | OCA2 | c.1714C > T(p.R572C) | c.2180 T > C(p.L727P) |
 34 | M | A | OCA2 | OCA2 | c.2180 T > C(p.L727P) | c.1327G > A(p.V443I) |
 35 | M | A | OCA2 | OCA2 | c.1349C > T(p.T450 M) | c.1832 T > C(p.L611P) |
 36 | F | A | OCA2 | OCA2 | c.1363A > G(p.R455G) | c.808-3C > G |