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首页> 外文期刊>Clinica chimica acta: International journal of clinical chemistry and applied molecular biology >Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjogren syndrome and Dandy-Walker syndrome
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Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjogren syndrome and Dandy-Walker syndrome

机译：中国海军陆战队员Shogren综合征和Dandy-Walker综合征近亲家庭的新型SIL1不间断突变

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摘要

Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder, which is characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness, and delayed psychomotor development. SILL, which is located at 5q31.2, is the only gene known to cause MSS. Dandy-Walker syndrome (DWS) is defined by hypoplasia, upward rotation of the cerebellar vermis, and cystic dilation of the fourth ventricle; however, its genetic pathogeny remains unclear. Here, we report a Chinese consanguineous family with MSS and DWS. Whole exome sequencing identified a novel nonstop mutation in SILL. Sanger sequencing revealed that the mutation was segregated in this family according to a recessive mode of inheritance. We found that the mutation changed a stop codon (TGA) to an arginine codon (CGA), and no in-frame termination codon in the 3' untranslated region (UTR) of SIL1 could be found. The mRNA levels of SILL were decreased by 56.6% and 37.5% in immortalized lymphoblasts of the patients respectively; the protein levels of SILL were substantially decreased. This case study is the first report on Chinese MSS patients, MSS complicated by DWS, and a nonstop mutation in SIL1. Our findings imply the pathogenetic association between DWS and MSS. (C) 2016 Elsevier B.V. All rights reserved.
机译：Marinesco-Sjogren综合征（MSS）是一种罕见的常染色体隐性遗传疾病，其特征是先天性白内障，小脑性共济失调，进行性肌无力和精神运动发育迟缓。位于5q31.2的SILL是已知导致MSS的唯一基因。 Dandy-Walker综合征（DWS）的定义为发育不全，小脑ver部向上旋转以及第四脑室的囊性扩张。然而，其遗传病因仍不清楚。在这里，我们报告了一个中国近亲家庭，MSS和DWS。整个外显子组测序鉴定出SILL中一个新的不间断突变。 Sanger测序表明，突变是根据隐性遗传方式在这个家族中分离的。我们发现该突变将终止密码子（TGA）更改为精氨酸密码子（CGA），并且在SIL1的3'非翻译区（UTR）中未发现框内终止密码子。在永生化的淋巴母细胞中，SILL的mRNA水平分别降低了56.6％和37.5％; SILL的蛋白质水平显着降低。该案例研究是有关中国MSS患者，MSS并发DWS以及SIL1不间断突变的首次报道。我们的发现暗示DWS和MSS之间的致病性关联。 （C）2016 Elsevier B.V.保留所有权利。

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