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与类固醇抵抗性肾病综合征相关的威尔姆斯瘤1基因新突变。

Novel mutation in Wilms' tumour 1 gene associated with steroid-resistant nephrotic syndrome.

作者信息

Beltcheva Olga, Boueva Anelia, Morgunova Ekaterina, Boiadjieva Emilia, Marinova Svetlana, Kaneva Radka, Mitev Vanio

机构信息

Department of Medical Chemistry and Biochemistry, Molecular Medicine Center , Medical University-Sofia Bulgaria.

Department of Pediatrics , Medical University-Sofia , Bulgaria.

出版信息

NDT Plus. 2011 Feb;4(1):17-9. doi: 10.1093/ndtplus/sfq173. Epub 2010 Oct 7.

DOI:10.1093/ndtplus/sfq173
PMID:25984092
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4421628/
Abstract

We report the case of a paediatric patient with steroid-resistant nephrotic syndrome due to a novel dominant Wilms' tumour 1 mutation. The nucleotide change C1184A, identified in exon 9, results in amino acid substitution Ser395Tyr. Genotyping of parents and healthy controls indicated that this is a de novo mutation not present in healthy individuals. The affected amino acid is evolutionarily conserved and is located in a functionally important domain of the protein involved in DNA binding. Molecular modelling based on crystallography data indicated that the substitution would have a deleterious effect on the protein function.

摘要

我们报告了一例因一种新的显性威尔姆斯瘤1基因突变导致类固醇抵抗性肾病综合征的儿科患者。在外显子9中鉴定出的核苷酸变化C1184A导致氨基酸取代Ser395Tyr。对父母和健康对照进行基因分型表明，这是一种健康个体中不存在的新发突变。受影响的氨基酸在进化上是保守的，位于参与DNA结合的蛋白质的一个功能重要结构域中。基于晶体学数据的分子建模表明，这种取代将对蛋白质功能产生有害影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/4421628/cd9d93bc6360/sfq173fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/4421628/bacd72f41efb/sfq173fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/4421628/cd9d93bc6360/sfq173fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/4421628/bacd72f41efb/sfq173fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dd3/4421628/cd9d93bc6360/sfq173fig2.jpg

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本文引用的文献

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Clustal W and Clustal X version 2.0.Clustal W和Clustal X 2.0版本
Bioinformatics. 2007 Nov 1;23(21):2947-8. doi: 10.1093/bioinformatics/btm404. Epub 2007 Sep 10.
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Structure of the Wilms tumor suppressor protein zinc finger domain bound to DNA.与DNA结合的威尔姆斯肿瘤抑制蛋白锌指结构域的结构。
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Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.威尔姆斯瘤1基因的突变会导致孤立性类固醇抵抗性肾病综合征，且这些突变发生在第8和第9外显子中。
Pediatr Res. 2006 Feb;59(2):325-31. doi: 10.1203/01.pdr.0000196717.94518.f0.
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CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility.CD2相关蛋白单倍体不足与肾小球疾病易感性相关。
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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.编码肾小球蛋白足突蛋白的NPHS2基因在常染色体隐性遗传性类固醇抵抗型肾病综合征中发生突变。
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Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.编码α-辅肌动蛋白-4的ACTN4基因突变会导致家族性局灶节段性肾小球硬化。
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Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.一种新型肾小球蛋白——nephrin的定位克隆基因在先天性肾病综合征中发生突变。
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