A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.
A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.
复制标题
一名患有凝胶状水滴样角膜营养不良的日本患者出现了一种新的错义突变。
DOI：
10.1016/j.ajo.2004.06.090
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发表时间：
2005
影响因子：
4.2
通讯作者：
Y. Tano
中科院分区：
文献类型：
--
作者：
Y. Taniguchi;M. Tsujikawa;S. Hibino;K. Tsujikawa;Tatsuya Tanaka;Akira Kiridoushi;Y. Tano
目的：报道TACSTD 2基因L186 P突变与胶质状水滴样营养不良（GDLD）的关系，病例报告及实验研究。扩增TACSTD 2基因的1.1-kb DNA片段，并使用分子生物学方法进行分析。从患者的角膜cDNA也进行了分析，以确定在患者的角膜上皮中表达的等位基因。RT-PCR序列分析显示，该患者是一个复合杂合子的Q118 X突变和L186 P，第一个错义突变发现在日本GDLD。聚合酶链反应-限制性片段长度多态性分析从cDNA的患者的角膜显示，L186 P错义突变等位基因在患者的角膜epithelial. CONCLUSION我们描述了一种新的突变在一个日本GDLD的情况下。结果证实TACSTD 2基因中的错义突变L186 P也是GDLD表型的原因。
PURPOSETo report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD).DESIGNCase report and experimental study.METHODA 10-year-old Japanese boy suffering from typical GDLD was studied. A 1.1-kb DNA fragment of the TACSTD2 gene was amplified and analyzed using a molecular biological method. cDNA from the patient's cornea was also analyzed to determine which allele was expressed in the patient's corneal epithelium.RESULTSSequence analysis revealed that the patient is a compound heterozygote for the Q118X mutation and the L186P, the first missense mutation found in Japanese GDLD. Polymerase chain reaction–restriction fragment length polymorphism analysis from cDNA of patient's cornea revealed that the L186P missense mutation allele is expressed in the patient's corneal epithelium.CONCLUSIONWe describe a novel mutation in one case of Japanese GDLD. The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype.