title: Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
abstract: BACKGROUND
  Wilson's disease diagnosis is still a challenge for clinicians.
  
  
  OBJECTIVE
  To underline the importance of genetic testing in carrier detection and diagnosis of atypical Wilson's disease cases.
  
  
  METHODS
  Two families with Wilson's disease in two consecutive generations were analysed with clinical, biochemical and genetic testing.
  
  
  RESULTS
  In one family with triplet siblings, two of whom monozygotic, molecular screening of ATP7B, the gene responsible for Wilson's disease phenotype, allowed detection of 3 disease alleles, the discrimination between carrier and disease state and the postmortem diagnosis of Wilson's disease in the siblings' father. In the second family, molecular analysis detected 3 disease alleles and confirmed the diagnosis of Wilson's disease in two asymptomatic monozygotic twins.
  
  
  CONCLUSIONS
  These results demonstrate that mutational analysis is determinant for carrier identification and diagnosis of atypical Wilson's disease patients.
authors.affiliation: Ospedale Regionale per le Microcitemie, Cagliari, Italy. gloudian@mcweb.unica.it
authors.forename: Georgios
authors.initials: G
authors.lastname: Loudianos
authors.forename: Antonietta
authors.initials: A
authors.lastname: Zappu
authors.forename: Maria Barbara
authors.initials: MB
authors.lastname: Lepori
authors.forename: Simona
authors.initials: S
authors.lastname: Incollu
authors.forename: Valentina
authors.initials: V
authors.lastname: Dessì
authors.forename: Eva
authors.initials: E
authors.lastname: Mameli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Garrucciu
authors.forename: Stefano
authors.initials: S
authors.lastname: De Virgiliis
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D000483:Alleles; D001219:Aspartate Aminotransferases / Q000097:blood; D027682:Cation Transport Proteins / Q000235:genetics*; D002570:Ceruloplasmin / Q000378:metabolism; D003300:Copper / Q000097:blood / Q000652:urine; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007558:Italy; D008875:Middle Aged; D009154:Mutation
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D002570:Ceruloplasmin; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases