title: Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease.
abstract: 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 cirrhosis (ICC), idiopathic copper toxicosis (ICT), and resembles the early forms of Wilson's disease (WND). It has been argued that ETIC might represent an allelic variant of the WND gene, which is a copper transporting P-type ATPase (ATP7B). Assuming that ETIC results from a founder effect, a possible role for ATP7B in ETIC was investigated by association studies and haplotype sharing. Because of its lethality, the mapping of ETIC was focused on obligate gene carriers, i.e. the patients' parents. Our data indicate that ETIC is a separate genetic entity, distinct from WND.
authors.affiliation: Department of Human Genetics, Utrecht University, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Wijmenga
authors.forename: T
authors.initials: T
authors.lastname: Müller
authors.forename: I S
authors.initials: IS
authors.lastname: Murli
authors.forename: T
authors.initials: T
authors.lastname: Brunt
authors.forename: H
authors.initials: H
authors.lastname: Feichtinger
authors.forename: D
authors.initials: D
authors.lastname: Schönitzer
authors.forename: R H
authors.initials: RH
authors.lastname: Houwen
authors.forename: W
authors.initials: W
authors.lastname: Müller
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: P L
authors.initials: PL
authors.lastname: Pearson
mesh_terms: D017668:Age of Onset; D000483:Alleles; D005260:Female; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic