title: Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.
abstract: Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. On the basis of recent evidence of locus heterogeneity, we studied 19 subjects (7 affected members) of a BRIC family. Male-to-male transmission and the presence of affected females suggested autosomal dominant inheritance. Blood samples were collected after informed consent. Subjects were genotyped by using markers mapping to 18q and 2q24 region, respectively, where the genes FIC1 and FIC2 have been mapped. Segregation of haplotypes excluded the two regions in our family. These findings suggest further genetic heterogeneity of the origin of BRIC.
authors.affiliation: Department of Surgical and Gastroenterological Sciences, University of Padova, Padova, Italy. aflor@ux1.unipd.it
authors.forename: A
authors.initials: A
authors.lastname: Floreani
authors.forename: M
authors.initials: M
authors.lastname: Molaro
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: A
authors.initials: A
authors.lastname: Sangalli
authors.forename: A
authors.initials: A
authors.lastname: Baragiotta
authors.forename: A
authors.initials: A
authors.lastname: Roda
authors.forename: R
authors.initials: R
authors.lastname: Naccarato
authors.forename: M
authors.initials: M
authors.lastname: Clementi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000328:Adult; D002758:Cholangiography; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008111:Liver Function Tests; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D012008:Recurrence
chemical_list: D000251:Adenosine Triphosphatases; C111067:ATP8B1 protein, human