Table 3 of Cho, Mol Vis 2012; 18:2012-2021.


Table 3. Mutational analysis of TGFBI in defined populations (Korea, Mexico, New Zealand, Polish, Taiwan, and Ukraine).

Population Corneal dystrophies (TGFBI mutations)
Korea [this study] * GCD2 (R124H), TBCD (R555Q), LCD1 (R124C), Variant LCD (L527R, P542R)
Polish [9] * LCD1 (R124C), GCD1 (R555W), GCD2 (R124H), TBCD (R555Q), Variant LCD (H626R)
Ukraine [10] * LCD1 (R124C), GCD1 (R555W)
Mexico [11] * Variant LCD (H626R), GCD1 (R555W), GCD2 (L550P), atypical GCD (L550P/H626R, V113I), PCA (A546D)
Taiwan [12] * GCD2 (R124H), GCD1 (R555W), TBCD (R555Q), LCD1 (R124C), Variant LCD (A546D)
New Zealand [13] * GCD1 (R555W), CDB (H626P), ** LCD