Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson'sdisease

Recently, 138 cases of infantile cirrhosis originating in several families in the Austrian province of the Tyrol were reported. This endemic Tyrolean infantile cirrhosis (ETIC) is indistinguishable from Indian childhood cirrh osis (ICC), idiopathic copper toxicosis (ICT), and resembles the early form s of Wilson's disease (WND). It has been argued that ETIC might represent a n allelic variant of the WND gene, which is a copper transporting P-type AT Pase (ATP7B). Assuming that ETIC results from a founder effect, a possible role for ATP7B in ETIC was investigated by association studies and haplotyp e sharing. Because of its lethality, the mapping of ETIC was focused on obl igate gene carriers, i.e. the patients' parents. Our data indicate that ETI C is a separate genetic entity, distinct from WND.