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首页> 外文期刊>Mutation Research. Reviews in Mutation Research >The spectrum of inherited mutations causing HPRT deficiency: 75 new casesand a review of 196 previously reported cases [Review]
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The spectrum of inherited mutations causing HPRT deficiency: 75 new casesand a review of 196 previously reported cases [Review]

机译：导致HPRT缺乏的遗传突变谱：75例新病例，对196例以前报道的病例进行了回顾[综述]

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摘要

In humans, mutations in the gene encoding the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) are associated with a spectrum of disease that ranges from hyperuricemia alone to hyperuricemia with profound neurological and behavioral dysfunction. Previous attempts to correlate different types or locations of mutations with different elements of the disease phenotype have been limited by the relatively small numbers of available cases. The current article describes the molecular genetic basis for 75 new cases of HPRT deficiency, reviews 196 previously reported cases, and summarizes four main conclusions that may be derived from the entire database of 271 mutations. First, the mutations associated with human disease appear dispersed throughout the hprt gene, with some sites appearing to represent relative mutational hot spots. Second, genotype-phenotype correlations provide no indication that specific disease features associate with specific mutation locations. Third, cases with less severe clinical manifestations typically have mutations that are predicted to permit some degree of residual enzyme function. Fourth, the nature of the mutation provides only a rough guide for predicting phenotypic severity. Though mutation analysis does not provide precise information for predicting disease severity, it continues to provide a valuable tool for genetic counseling in terms of confirmation of diagnoses, for identifying potential carriers, and for prenatal diagnosis.
机译：在人类中，编码嘌呤清除酶次黄嘌呤-鸟嘌呤磷酸核糖基转移酶（HPRT）的基因突变与一系列疾病有关，从单纯的高尿酸血症到具有严重神经和行为功能障碍的高尿酸血症。将突变的不同类型或位置与疾病表型的不同元素相关联的先前尝试已经受到相对少量的可用病例的限制。当前文章描述了75例HPRT缺乏新病例的分子遗传基础，回顾了196例先前报道的病例，并总结了四个主要结论，这些结论可以从整个271个突变数据库中得出。首先，与人类疾病相关的突变似乎分散在整个hprt基因中，某些位点似乎代表了相对的突变热点。第二，基因型与表型的相关性没有提供表明特定疾病特征与特定突变位置相关的迹象。第三，具有较轻临床表现的病例通常具有突变，这些突变预计会允许某种程度的残留酶功能。第四，突变的性质仅提供了预测表型严重性的粗略指导。尽管突变分析不能提供准确的信息来预测疾病的严重程度，但它仍为遗传咨询提供了有价值的工具，可用于确诊，确定潜在携带者和产前诊断。

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