Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Arquivos de Neuro-Psiquiatria

Ricardo Schmitt De Bem²  Salmo Raskin¹  Dominique Araujo Muzzillo²  Marta Mitiko Deguti¹  Eduardo Luiz Rachid Cancado¹  Thiago Ferreira Araujo¹  Maria Cristina Nakhle¹  Egberto Reis Barbosa¹  Renato Puppi Munhoz¹  Helio Afonso Ghizoni Teive¹ 

[1] ,UFPR Gastroenterology and Hepatology Service Internal Medicine DepartmentCuritiba PR ,Brazil

关键词: hepatolenticular degeneration;    signs and symptoms;    genetics;    degeneracao hepatolenticular;    sinais e sintomas;    genetica;   

DOI  :  10.1590/0004-282X20130078

来源: SciELO

【 摘 要 】

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. CONCLUSION: 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.

【 授权许可】

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