title: Genetics of Wilson's disease: a clinical perspective.
abstract: Hepatic Wilson's disease is often a difficult diagnosis to confirm. This review examines the current role of genetic tests for Wilson's disease and is aimed at clinicians caring for patients with this disease. We discuss how genetic testing is carried out for Wilson's disease, indications for these tests, and genetic counseling for the family. In contrast to the advances in diagnosis of Wilson's disease by testing for ATP7B mutations, genotype-phenotype correlations are not yet sufficiently established. The non-Wilsonian copper overload syndromes causing cirrhosis in children are another important area for study. The review also identifies further areas for research into the genetics of Wilson's disease in India.
authors.affiliation: Department of Hepatology, Christian Medical College, Vellore 632 004, Tamil Nadu, India.
authors.forename: S Suresh
authors.initials: SS
authors.lastname: Kumar
authors.forename: George
authors.initials: G
authors.lastname: Kurian
authors.forename: C E
authors.initials: CE
authors.lastname: Eapen
authors.forename: Eve A
authors.initials: EA
authors.lastname: Roberts
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D005817:Genetic Counseling; D005820:Genetic Testing; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D010641:Phenotype
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases