Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy.
Mol Cell Probes. 2012 Aug;26(4):147-50. doi: 10.1016/j.mcp.2012.03.007. Epub 2012 Mar 29.
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.
威尔逊病（WD）是一种常染色体隐性遗传性铜转运疾病，具有广泛的基因型和表型特征，由 ATP7B 基因突变引起。本文报告了一组主要为意大利血统的 118 个威尔逊病家族（236 条染色体）的 ATP7B 基因突变分析结果。通过 DNA 测序，我们鉴定出 83 种致病突变。其中 11 种是新的，而在本研究中，21 种已在新人群中描述的突变也被鉴定出来。特别是，对 13 个罗马尼亚血统家族的突变分析显示，p.H1069Q 突变（50%）的发生率很高。在新人群中检测到 ATP7B 基因突变新的突变增加了我们进行分子分析的能力，这对于 WD 的早期诊断和治疗至关重要。
