Novel pathogenic mutations in the glucocerebrosidase locus

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• 作者：Raquel Duran ; Alisdair McNeill ; Atul Mehta ; Derralyn Hughes ; Timothy Cox ; Patrick Deegan ; Anthony H.V. Schapira ; John Hardy
• 关键词：Parkinson's disease ; Genetics ; Gaucher's disease ; Glucocerebrosidase ; GBA1 gene
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 出版时间：August, 2012
• 年：2012
• 卷：106
• 期：4
• 页码：495-497
• 全文大小：147 K

文摘

To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site change; the others are novel missense mutations. Given that GBA1 gene mutations are an important risk factor for the development of Parkinson's disease, we contend that a complete analysis and molecular characterization of both the known and novel GBA1 variants will be needed before the biochemical processes underlying this genetic association can be fully understood.