IDENTIFICATION OF 3 NOVEL MUTATIONS AND A HIGH-FREQUENCY OF THE ARG778LEU MUTATION IN KOREAN PATIENTS WITH WILSON-DISEASE

Four mutations-R778L, A874V, L1083F, and 2304delC-in the copper-transp orting enzyme, P-type ATPase (ATP7B), were identified in Korean Patien ts with Wilson disease. Arg778Leu, the most frequently reported mutati on of this enzyme, was found in six of eight unrelated patients studie d, an allele frequency of 37.5%, which is considerably higher than tho se in other Asian populations. The novel single nucleotide deletion, 2 304delC, was found in one patient. Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP 7B gene may be susceptible to gene rearrangements causing Wilson disea se. (C) 1998 Wiley-Liss, Inc.