Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.
Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.
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CHST6基因的新型复合杂合突变导致中国汉族家庭黄斑角膜营养不良
DOI：
10.21037/atm-20-7178
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发表时间：
2021-04
影响因子：
--
通讯作者：
Deng H
中科院分区：
文献类型：
--
作者：
Huang Y;Yuan L;Cao Y;Tang R;Xu H;Tang Z;Deng H
黄斑性角膜营养不良(MCD)是一种罕见的常染色体隐性遗传病，由糖基转移酶6基因(CHST6)的致病突变引起，以双侧进行性基质混浊和视力丧失为特征。角膜移植通常是必要的。这项研究旨在确定一名汉族MCD患者的致病突变。招募了一名被诊断为MCD的37岁女性。观察并描述临床资料，抽取外周血标本。用全外显子测序(WES)和Sanger测序揭示基因缺陷。对已鉴定的突变的致病性进行了电子分析。患者有典型的MCD特征，包括视力下降，多发不规则的灰白色角膜混浊，角膜变薄。在CHST6基因编码区发现了一个新的无义突变c.544C>；T(p.Gln182Ter)和一个有效的错义突变c.631C>；G(p.Arg211Gly)，根据美国医学遗传学和基因组学标准和指南，这两个突变都被归类为致病。本研究报告了一例中国汉族人MCD患者，具有一种新的无义突变c.544C>；T(p.Gln182Ter)和一种反复出现的错义突变c.631C>；G(p.Arg211Gly)，这两种突变扩大了基因突变的范围。本研究结果扩大了CHST6基因突变与MCD临床表现之间的基因型-表型相关性，有助于更准确的诊断和开发潜在的基因靶向MCD治疗方法。糖基转移酶6基因；复合杂合子突变；汉族人；黄斑性角膜营养不良
Macular corneal dystrophy (MCD), a rare autosomal recessive disorder, is caused by pathogenic mutations in the carbohydrate sulfotransferase 6 gene (CHST6) and is characterized by bilateral progressive stromal clouding and vision loss. Corneal transplantation is often necessary. This study aimed to identify disease-causing mutations in a Han-Chinese MCD patient. A 37-year-old female diagnosed with MCD was recruited. The clinical materials were observed and described, and peripheral blood sample was extracted. Whole exome sequencing (WES) and Sanger sequencing were used to reveal genetic defects. The pathogenicity of identified mutations was assessed using in silico analysis. The patient had typical features of MCD, including decreased vision, multiple irregular gray-white corneal opacities, and corneal thinning. A novel nonsense mutation c.544C>T (p.Gln182Ter) and a validated missense mutation c.631C>G (p.Arg211Gly) were identified in the CHST6 gene coding region, both classified as “pathogenic” following the American College of Medical Genetics and Genomics standards and guidelines. This study reports a Han-Chinese MCD patient with a novel nonsense mutation c.544C>T (p.Gln182Ter) and a recurrent missense mutation c.631C>G (p.Arg211Gly), which expand the spectrum of genetic mutations. The results of this study extend genotype-phenotype correlations between the CHST6 gene mutations and MCD clinical findings, contributing to a more accurate diagnosis and the development of potential gene-targeted MCD therapies. Carbohydrate sulfotransferase 6 gene (CHST6); compound heterozygous mutations; Han Chinese family; macular corneal dystrophy (MCD)
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影响因子：
2.8
作者：
Patel DA;Harocopos GJ;Chang SH;Vora SC;Lubniewski AJ;Huang AJ
通讯作者：
Huang AJ
影响因子：
2.1
作者：
Paliwal, Preeti;Sharma, Arundhati;Vajpayee, Rasik B.
通讯作者：
Vajpayee, Rasik B.
DOI：
10.1007/s00417-008-0836-1
发表时间：
2008-10-01
影响因子：
2.7
作者：
Gruenauer-Kloevekorn, Claudia;Braeutigam, Saskia;Duncker, Gernot I. W.
通讯作者：
Duncker, Gernot I. W.
影响因子：
4.1
作者：
Nowinska, Anna K.;Wylegala, Edward;Puzzolo, Domenico
通讯作者：
Puzzolo, Domenico
影响因子：
4.4
作者：
Iida-Hasegawa, N;Furuhata, A;Kanai, A
通讯作者：
Kanai, A