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Compendium of causative genes and their encoded proteins for common monogenic disorders
Protein Science ( IF 8 ) Pub Date : 2021-09-13 , DOI: 10.1002/pro.4183
Tucker L Apgar 1 , Charles R Sanders 1
Affiliation  

A compendium is presented of inherited monogenic disorders that have a prevalence of >1:20,000 in the human population, along with their causative genes and encoded proteins. “Simple” monogenic diseases are those for which the clinical features are caused by mutations impacting a single gene, usually in a manner that alters the sequence of the encoded protein. Of course, for a given “monogenic disorder”, there is sometimes more than one potential disease gene, mutations in any one of which is sufficient to cause phenotypes of that disorder. Disease-causing mutations for monogenic disorders are usually passed on from generation to generation in a Mendelian fashion, and originate from spontaneous (de novo) germline founder mutations. In the past monogenic disorders have often been written off as targets for drug discovery because they sometimes are assumed to be rare disorders, for which the meager projected financial payoff of drug discovery and development has discouraged investment. However, not all monogenic diseases are rare. Here, we report that that currently available data identifies 72 disorders with a prevalence of at least 1 in 20,000 humans. For each, we tabulate the gene(s) for which mutations cause the spectrum of phenotypes associated with that disorder. We also identify the gene and protein that most commonly causes each disease. 34 of these disorders are caused exclusively by mutations in only a single gene and encoded protein.

中文翻译:

常见单基因疾病致病基因及其编码蛋白概要

概要介绍了在人群中患病率 >1:20,000 的遗传性单基因疾病及其致病基因和编码蛋白质。“简单”单基因疾病是指那些临床特征是由影响单个基因的突变引起的,通常以改变编码蛋白质序列的方式引起。当然,对于一种特定的“单基因疾病”,有时存在多个潜在的疾病基因,其中任何一个基因的突变都足以引起该疾病的表型。单基因疾病的致病突变通常以孟德尔方式代代相传,并且源自自发(从头)种系创始人突变。过去,单基因疾病常常被视为药物发现的目标,因为它们有时被认为是罕见疾病,而药物发现和开发的预计财务回报微薄,阻碍了投资。然而,并非所有单基因疾病都很罕见。在这里,我们报告说,目前可用的数据确定了 72 种疾病,其患病率至少为每 20,000 人中就有 1 人。对于每种疾病,我们将其突变导致与该疾病相关的表型谱的基因制成表格。我们还确定了最常导致每种疾病的基因和蛋白质。其中 34 种疾病完全是由单个基因和编码蛋白的突变引起的。
更新日期:2021-09-13
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