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Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy

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收录情况： ◇ SCIE ◇ 中华系列

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机构： [1]Beijing Institute of Ophthalmology , Beijing Tongren Hospital , CapitalUniversity of Medical Sciences , Beijing 100730 , China [2]Department of Ophthalmology , Baoding Second Hospital , Baoding071051 , Chin

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关键词： corneal dystrophy BIGH3 gene gene mutation analysis

摘要：

Background Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy. Methods Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor beta-induced gene (BIGH3 gene) was performed. Results Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H. Conclusion Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.

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无

最新[2023]版：

大类 | 3 区医学

小类 | 3 区医学：内科

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出版当年[2002]版：

Q4 MEDICINE, GENERAL & INTERNAL

最新[2023]版：

Q1 MEDICINE, GENERAL & INTERNAL

影响因子： 7.5 最新[2023版] 4.9 最新五年平均 0.182 出版当年[2002版] 0 出版当年五年平均 0.108 出版前一年[2001版] 0.393 出版后一年[2003版]

第一作者：

第一作者机构： [1]Beijing Institute of Ophthalmology , Beijing Tongren Hospital , CapitalUniversity of Medical Sciences , Beijing 100730 , China [*1]Beijing Institute of Ophthalmology ,Beijing Tongren Hospital , Beijing 100730 , China

通讯作者：

通讯机构： [1]Beijing Institute of Ophthalmology , Beijing Tongren Hospital , CapitalUniversity of Medical Sciences , Beijing 100730 , China [*1]Beijing Institute of Ophthalmology ,Beijing Tongren Hospital , Beijing 100730 , China

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