EHMT1基因的基因内重复导致克莱夫斯特拉综合征。
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
作者信息
Schwaibold Eva Maria Christina, Smogavec Mateja, Hobbiebrunken Elke, Winter Lorenz, Zoll Barbara, Burfeind Peter, Brockmann Knut, Pauli Silke
机构信息
Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany.
出版信息
Mol Cytogenet. 2014 Oct 23;7(1):74. doi: 10.1186/s13039-014-0074-7. eCollection 2014.
BACKGROUND
Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.
RESULTS
We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1.
CONCLUSIONS
This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.
背景
克莱夫斯特拉综合征的特征为智力残疾、儿童期肌张力减退和典型面部特征。它是由9号染色体长臂34区的常染色质组蛋白赖氨酸N - 甲基转移酶1（EHMT1）基因发生微缺失或有害序列变异所致。
结果
我们报告了一名具有克莱夫斯特拉综合征特征症状的3岁女孩。阵列比较基因组杂交分析显示，存在一个跨越EHMT1基因第2至10外显子的145千碱基重复序列。序列分析表明，它是一种基因内串联重复，导致EHMT1基因发生移码并出现过早终止密码子。
结论
这是首次描述由EHMT1基因内重复导致克莱夫斯特拉综合征的病例。
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