Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract.
Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract.
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TMCO3 基因突变与角膜点滴和前极白内障有关
DOI：
10.1038/srep31021
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发表时间：
2016-08-03
影响因子：
4.6
通讯作者：
Huang Y
中科院分区：
文献类型：
--
作者：
Chen P;Hao X;Li W;Zhao X;Huang Y
角膜点状和前极性白内障的分子基础在大多数情况下仍然是特发性的。在这项研究中，我们的目的是确定中国患者与这些疾病相关的基因。患者的条件，从两个中国家庭和10个散发患者，进行了调查。全基因组连锁和外显子组测序分析显示，跨膜和卷曲螺旋结构域3（TMCO3）是编码杂合突变c.41C > T的疾病候选基因，导致P14 L氨基酸改变，与A家族中发现的疾病表型共分离。TMCO 3属于单价阳离子：蛋白质反向转运蛋白2转运蛋白家族，这是一个中等规模的家族，其成员在正常生理条件下都具有非常相似的功能。该基因在人角膜、透镜囊和脉络膜视网膜色素上皮中表达。本研究首次揭示了TMCO3基因突变与角膜点状病变和前极白内障相关，为进一步研究该疾病的发病机制奠定了基础。
The molecular basis for cornea guttata and anterior polar cataract remains idiopathic in most cases. In this study, our aim was to identify the disease-associated gene in Chinese patients with these conditions. Patients with the conditions from two Chinese families and ten sporadic patients, were investigated. Genome-wide linkage and exome sequencing analyses showed transmembrane and coiled-coil domain 3 (TMCO3) as the disease candidate gene for a coding heterozygous mutation c.41C > T, resulting in a P14L amino acid change that co-segregated with the disease phenotype as discovered in Family A. TMCO3 belongs to the monovalent cation: protein antiporter 2 transporter family, a moderately large group whose members all share a very similar function under normal physiological conditions. The gene is expressed in the human cornea, lens capsule and choroid-retinal pigment epithelium. This study reveals, for the first time, that mutations in TMCO3 are associated with cornea guttata and anterior polar cataract, warranting further investigation into the pathogenesis of this disorder.