Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population

Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease

“…It substitutes a hydrophobic amino acid for a charged polar acidic one. [13][14] Both L1255I and D1267A are present in the ATP hinge site of the ATP7B protein, presumably jeopardizing ATP binding. The rarity of these mutations hinders us from making a genotype-phenotype correlation.…”

Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association

“…Besides the 12 mutations previously reported by Tsai et al (1998), we identified another 4 missense mutations (A874V, V1216M, E1173K, and D1279G) in Taiwanese WND chromosomes; the A874V mutation was recently reported in Japanese and Korean WND chromosomes (Yamaguchi et al 1998;Kim et al 1998), and V1216M and E1173K were identified in Mediterranean WND chromosomes (Loudianos et al 1998(Loudianos et al , 1999. However, D1279G is a novel mutation with nonconservative amino acid substitution.…”

“…However, we found this task difficult, even in Japanese WND chromosomes themselves. For example, while R778L was found to be associated with haplotypes: 5-5-6, 7-5-4, 7-5-5, 7-5-5.5, and 7-5-7 in one study of Japanese WND patients (Nanji et al 1997), the same mutation was found to be associated with a haplotype of either 8.5-6-5.5 or 8.5-6-7 in an other study (Yamaguchi et al 1998). This discrepancy was probably derived from either different amplification primers used or different allele definitions used by the different laboratories.…”

“…Because we do not yet have such a consensus, we listed our allele-size definition in Table 1. On the other hand, the presence of other populationspecific mutations in these three ethnic groups suggests that there still is heterogeneity in WND chromosomes within each population (Nanji et al 1997;Tsai et al 1998;Yamaguchi et al 1998;Kim et al 1998).…”

“…Some WND mutations, e.g., R778L, P992L, A874V, 2304insC, and N1270S, were identified in both Taiwanese and Japanese (Chuang et al 1996;Nanji et al 1997;Tsai et al 1998;Yamaguchi et al 1998). It would be interesting to determine whether these common mutations also shared the same haplotypes in these two ethnic populations.…”