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首页> 外文期刊>Genomics >Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing
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Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing

机译：使用靶向下一代测序技术的两个中国血脂异常II alpha / beta家族的两个GNPTAB基因纯合无意义突变

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摘要

Mucolipidosis II alpha/beta (ML II alpha/beta; I-cell disease) is a rare, inherited, metabolic disease and has often been clinically misdiagnosed. ML II alpha/beta results from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-PT), which causes the lysosomal enzymes to accumulate in plasma. We identified two new Chinese patients with ML II alpha/beta by lysosomal enzyme assay. Using targeted next-generation sequencing genetic analysis, we located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X). These results were confirmed by Sanger sequencing. To our knowledge, the c.1071G>A mutation has not been previously reported. Our findings add to the number of reported cases of this rare illness and to the GNPTAB pathogenic mutation database. This work also demonstrates the application of lysosomal enzyme assay and targeted next-generation sequencing for the genetic screening analysis and diagnosis of ML II alpha/beta.
机译：血脂异常IIα/β（ML IIα/β; I细胞病）是一种罕见的遗传性代谢疾病，经常在临床上被误诊。 ML II alpha / beta是由于缺乏N-乙酰氨基葡糖-1-磷酸转移酶（GlcNAc-PT）引起的，该酶导致溶酶体酶在血浆中蓄积。我们通过溶酶体酶测定法鉴定了两名新的ML II alpha / beta的中国患者。使用靶向的下一代测序遗传分析，我们在GNPTAB基因中定位了两个纯合的无义突变，即c.1071G> A（p.W357X）和c.1090C> T（p.R364X）。这些结果通过Sanger测序证实。据我们所知，c.1071G> A突变先前尚未报道。我们的发现增加了这种罕见疾病的报告病例数，并增加了GNPTAB致病突变数据库。这项工作还证明了溶酶体酶测定法和靶向的下一代测序技术在ML IIα/β基因筛查分析和诊断中的应用。

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