Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
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DOI：
10.1038/hgv.2015.47
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发表时间：
2015
影响因子：
1.5
通讯作者：
Kinoshita S
中科院分区：
文献类型：
--
作者：
Jongkhajornpong P;Lekhanont K;Ueta M;Kitazawa K;Kawasaki S;Kinoshita S
我们在一个患有凝胶状滴状角膜营养不良（GDLD）的泰国近亲家族中发现了肿瘤相关钙信号转导子2（TACSTD 2）基因的一种新突变。所有受影响的家庭成员提出了一个强烈的淀粉样物质沉积在角膜上，这需要手术治疗。对这些个体的遗传分析揭示了TACSTD 2基因中的纯合突变c.79delC。这些个体的父母均未受影响，并在TACSTD 2基因中显示杂合突变。该突变产生了一个截短的蛋白质序列，可能是GDLD的原因。
We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgical management. Genetic analysis of these individuals revealed a homozygous mutation c.79delC, in the TACSTD2 gene. Both parents of these individuals were unaffected and showed heterozygous mutations in the TACSTD2 gene. The mutation produced a truncated protein sequence that might be the cause of GDLD.