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首页> 外文期刊>Annals of Human Genetics >Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations
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Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations

机译：来自印度西部的具有基因型与表型相关性的威尔逊病突变模式：p.C271 *作为常见的印度突变的确认和14种新型突变的鉴定

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Wilson disease (WD) is an autosomal recessive disorder resulting from mutations in the ATP7B gene, with over 600 mutations described. Identification of mutations has made genetic diagnosis of WD feasible in many countries. The heterogeneity of ATP7B mutants is, however, yet to be identified in the Indian population. We analyzed the mutational pattern of WD in a large region of Western India. We studied patients (n = 52) for ATP7B gene mutations in a cohort of families with WD and also in first-degree relatives (n = 126). All 21 exon—intron boundaries of the WD gene were amplified and directly sequenced. We identified 36 different disease-causing mutations (31 exonic and five intronic splice site variants). Fourteen novel mutations were identified. Exons 2, 8, 13, 14, and 18 accounted for the majority of mutations (86.4%). A previously recognized mutation, p.C271*, and the novel mutation p.E122fs, were the most common mutations with allelic frequencies of 20.2% and 10.6%, respectively. Frequent homozygous mutations (58.9%) and disease severity assessments allowed analysis of genotype-phenotype correlations. Our study significantly adds to the emerging data from other parts of India suggesting that p.C271* may be the most frequent mutation across India, and may harbor a moderate to severely disabling phenotype with limited variability.
机译：威尔逊病（WD）是由ATP7B基因突变引起的常染色体隐性遗传疾病，描述了600多个突变。突变的鉴定已使在许多国家进行WD的遗传诊断成为可能。 ATP7B突变体的异质性，但尚未在印度人口中被发现。我们分析了印度西部大区域的WD突变模式。我们在一组WD家族以及一级亲属中对患者（n = 52）的ATP7B基因突变进行了研究（n = 126）。 WD基因的所有21个外显子-内含子边界都被扩增并直接测序。我们确定了36种不同的致病突变（31个外显子突变和5个内含子剪接位点变异）。鉴定出十四个新突变。外显子2、8、13、14和18占突变的大部分（86.4％）。先前公认的突变p.C271 *和新突变p.E122fs是最常见的突变，其等位基因频率分别为20.2％和10.6％。频繁的纯合突变（58.9％）和疾病严重程度评估可以分析基因型与表型的相关性。我们的研究显着增加了印度其他地区的新兴数据，表明p.C271 *可能是整个印度最常见的突变，并且可能具有中等至严重致残的表型，且变异性有限。

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