Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

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• 作者：Maria-Barbara Lepori^a ; Antonietta Zappu^a ; Simona Incollu^a ; Valentina Dessì ; ^a ; Eva Mameli^a ; Luigi Demelia^b ; Anna Maria Nurchi^c ; Liana Gheorghe^d ; Giuseppe Maggiore^e ; Marco Sciveres^f ; Vincenzo Leuzzi^g ; Giuseppe Indolfi^h ; Luisa Bonaf&eacute ; ⁱ ; Carlo Casali^j ; Paolo Angeli^k ; Patrizia Barone^l ; Antonio Cao^m ; Georgios Loudianosⁿ ; ^{gloudian@mcweb.unica.it} ; ^{gloudian@yahoo.com}
• 关键词：Wilson's disease ; ATP7B ; Mutation ; Missense ; Diagnosis ; Prevention
• 刊名：Molecular and Cellular Probes
• 出版年：2012
• 出版时间：August, 2012
• 年：2012
• 卷：26
• 期：4
• 页码：147-150
• 全文大小：243 K

文摘

Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations. Eleven were novel, while twenty one already described mutations were identified in new populations in this study. In particular, mutation analysis of 13 families of Romanian origin showed a high prevalence of the p.H1069Q mutation (50 % ). Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.