Huang Yanxia, Yuan Lamei, Cao Yanna, Tang Renhong, Xu Hongbo, Tang Ziqian, Deng Hao
Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Department of Ophthalmology, the Third Xiangya Hospital, Central South University, Changsha, China.
Ann Transl Med. 2021 Apr;9(8):622. doi: 10.21037/atm-20-7178.
Macular corneal dystrophy (MCD), a rare autosomal recessive disorder, is caused by pathogenic mutations in the carbohydrate sulfotransferase 6 gene () 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 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 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 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 (); compound heterozygous mutations; Han Chinese family; macular corneal dystrophy (MCD).
黄斑角膜营养不良（MCD）是一种罕见的常染色体隐性疾病，由碳水化合物硫酸转移酶6基因（）的致病突变引起，其特征为双侧进行性基质混浊和视力丧失。角膜移植通常是必要的。本研究旨在鉴定一名汉族MCD患者的致病突变。
招募一名37岁被诊断为MCD的女性。观察并描述临床资料，提取外周血样本。采用全外显子组测序（WES）和桑格测序揭示基因缺陷。使用分析评估所鉴定突变的致病性。
该患者具有MCD的典型特征，包括视力下降、多个不规则灰白色角膜混浊和角膜变薄。在基因编码区鉴定出一个新的无义突变c.544C>T（p.Gln182Ter）和一个已验证的错义突变c.631C>G（p.Arg211Gly），根据美国医学遗传学与基因组学学会的标准和指南，这两个突变均被归类为“致病的”。
本研究报告了一名汉族MCD患者，其具有一个新的无义突变c.544C>T（p.Gln182Ter）和一个复发性错义突变c.631C>G（p.Arg211Gly），这扩展了基因突变谱。本研究结果扩展了基因的突变与MCD临床发现之间的基因型 - 表型相关性，有助于更准确的诊断以及潜在的针对MCD的基因靶向治疗的开发。
碳水化合物硫酸转移酶6基因（）；复合杂合突变；汉族家族；黄斑角膜营养不良（MCD）
