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

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.

Bibliographic Details

Main Authors:	Bem,Ricardo Schmitt de, Raskin,Salmo, Muzzillo,Dominique Araujo, Deguti,Marta Mitiko, Cancado,Eduardo Luiz Rachid, Araujo,Thiago Ferreira, Nakhle,Maria Cristina, Barbosa,Egberto Reis, Munhoz,Renato Puppi, Teive,Helio Afonso Ghizoni
Format:	Digital revista
Language:	English
Published:	Academia Brasileira de Neurologia - ABNEURO 2013
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000800503
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