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首页> 外文期刊>BMC Medical Genomics >Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review
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Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review

机译：与中国患者微球果相关的LTBP2基因中的化合物杂合突变：案例报告和文献综述

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摘要

Microspherophakia?(MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens.?Several studies have indicated that the transforming growth factor-beta (TGF-beta) binding proteins(LTBP2) gene mutation is the predominant cause of MSP. In our study, novel compound heterozygous mutations in the LTBP2 gene associated with MSP were reported, which was different from previous reported homozygous mutations. The proband was an 18‐year‐old male in Western China with bilateral MSP, accompanied by ectopia lentis, secondary glaucoma and blindness in both eyes. In our hospital, he received?bilateral lens resection and trabeculectomy combined with peripheral iridotomy. Using next-generation sequencing (NGS)-based gene panel tests, we identified pathogenic mutations in the peripheral blood DNA sample from the proband: c.3614_3618dupCTGGC (exon24, NM_000428) and c.2819G??A (exon18, NM_000428). The presence of the novel compound heterozygous mutations in the LTBP2?gene was linked with the development of MSP. Sanger sequencing confirmed the existence of one of the two variants in each parent respectively. Our results demonstrated a rare case of MSP phenotype associated with novel compound heterozygous mutations in the LTBP2?gene using NGS technology.
机译：微球果子？（MSP，OMIM 251,750）是一种稀有的遗传性常染色体隐性眼部疾病，其特征在于小球形透镜。有效研究表明，转化生长因子-β（TGF-β）结合蛋白（LTBP2）基因突变是主要的MSP的原因。在我们的研究中，报道了与MSP相关的LTBP2基因中的新化合物杂合突变，其与先前报道的纯合突变不同。概念是中国西部的18岁的男性，双边MSP，伴有异位小熊，二次青光眼和两只眼睛的失明。在我们的医院，他接受了？双侧镜片切除和Trabeculectomy与外周虹膜切除术相结合。使用下一代测序（NGS）基因面板测试，我们从先前的血液DNA样品中鉴定了致病性突变：C.3614_3618DupCTGGC（EXON24，NM_000428）和C.2819GΔα（Exon18，NM_000428） 。在LTBP2中的新化合物的杂合酶突变的存在与MSP的发育有关。 Sanger测序分别证实了每个父母中的两个变体中的一个存在。我们的结果表明，使用NGS技术的LTBP2α基因中具有新的化合物杂合酶突变的罕见含有MSP表型的罕见情况。

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