A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
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凝胶状水滴样角膜营养不良的新突变及功能分析
DOI：
10.1038/s41439-019-0060-z
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发表时间：
2019
影响因子：
1.5
通讯作者：
Nishida Kohji
中科院分区：
文献类型：
--
作者：
Nagahara Yukiko;Tsujikawa Motokazu;Takigawa Toru;Xu Peng;Kai Chifune;Kawasaki Satoshi;Nakatsukasa Mina;Inatomi Tsutomu;Kinoshita Shigeru;Nishida Kohji
我们在一位患有凝胶样滴状角膜营养不良(GDLD)的日本患者中发现了肿瘤相关钙信号转导2(TACSTD2)基因的新突变。遗传分析发现TACSTD2基因存在一种新的纯合子突变(c.798delG，可能导致移码突变p.Lys267SerfsTer4)。这个突变的基因失去了帮助claudin(CLDN)1和7蛋白从细胞质转移到质膜的原始功能。
We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c. 798delG, which may result in frameshift mutation p. Lys267SerfsTer4) in the TACSTD2 gene. This mutated gene was devoid of its original function in helping the claudin (CLDN) 1 and 7 proteins transfer from the cytoplasm to the plasma membrane.