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A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Molecular Biology Reports ( IF 2.8 ) Pub Date : 2020-09-04 , DOI: 10.1007/s11033-020-05774-z
Abdullah 1 , Pashmina Wiqar Shah 1 , Shoaib Nawaz 2 , Shabir Hussain 1 , Asmat Ullah 3 , Sulman Basit 4 , Wasim Ahmad 1
Affiliation  

Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation. It is characterized by a progressive spondyloepimetaphyseal dysplasia (SEMD) with disproportionate short stature, generalized platyspondyly and lacy iliac crest. Here, we report characterization of large consanguineous family segregating DMC in autosomal recessive manner. Scanning SNP-based human genome identified a 5.3 Mb homozygous region on chromosome 18q21.1-q21.2. Sanger sequencing of the DYM gene, located in the homozygous region, revealed a novel homozygous nonsense variant [c.59 T > A; p.(Leu20*)] in affected members of the family. Analysis of the mRNA, extracted from hair follicles of an affected individual, suggested non-sense mediated decay (NMD) of the truncated transcript. This is the first nonsense and fourth loss of function variant in the DYM gene, causing DMC, reported in the Pakistani population. This study not only extended spectrum of the mutations in the DYM gene but will also facilitate diagnosis of similar other cases in Pakistani population.



中文翻译:

DYM中的纯合性无意义变体是与外胚层特征相关的Dyggve-Melchior-Clausen综合征的基础。

Dyggve melchior Clausn综合征(DMC,MIM 223800)是一种非常罕见的常染色体隐性遗传形式的骨骼发育异常,伴有各种程度的智力低下。它的特征是进行性脊椎干pi端发育不良(SEMD),其身材矮小,泛发性颈椎和l状acy。在这里,我们报告以常染色体隐性方式隔离大近亲家庭DMC的特征。扫描基于SNP的人类基因组,在染色体18q21.1-q21.2上确定了5.3 Mb纯合区。DYM的Sanger测序位于纯合子区域的基因揭示了一种新型的纯合子无意义变异[c.59 T> A;p。(Leu20 *)]在受影响的家庭中。从受影响个体的毛囊中提取的mRNA的分析表明,无义介导的截短转录物的衰变(NMD)。这是巴基斯坦人口中报道的DYM基因中第一个无意义的缺失和第四个功能缺失,导致DMC。这项研究不仅扩大了DYM基因突变的范围,而且还将有助于诊断巴基斯坦人口中的其他类似病例。

更新日期:2020-09-05
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