title: Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
abstract: OBJECTIVE
  Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil.
  
  
  METHODS
  36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed.
  
  
  RESULTS
  Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time.
  
  
  CONCLUSIONS
  The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.
authors: UFPR, Gastroenterology and Hepatology Service, Internal Medicine Department, Curitiba PR, Brazil.
authors: Ricardo Schmitt de
authors: RS
authors: Bem
authors: Salmo
authors: S
authors: Raskin
authors: Dominique Araújo
authors: DA
authors: Muzzillo
authors: Marta Mitiko
authors: MM
authors: Deguti
authors: Eduardo Luiz Rachid
authors: EL
authors: Cançado
authors: Thiago Ferreira
authors: TF
authors: Araújo
authors: Maria Cristina
authors: MC
authors: Nakhle
authors: Egberto Reis
authors: ER
authors: Barbosa
authors: Renato Puppi
authors: RP
authors: Munhoz
authors: Hélio Afonso Ghizoni
authors: HA
authors: Teive
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D000073840:Copper-Transporting ATPases; D005260:Female; D056726:Genetic Association Studies; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases