A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family
<b>AIM:</b>To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract.<b>METHODS:</b> A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated w...
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| Format: | Article |
| Language: | English |
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Press of International Journal of Ophthalmology (IJO PRESS)
2013-02-01
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| Series: | International Journal of Ophthalmology |
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| Online Access: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580246/ |
| _version_ | 1811216601346736128 |
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| author | Xing-Chao Shentu |
| author_facet | Xing-Chao Shentu |
| author_sort | Xing-Chao Shentu |
| collection | DOAJ |
| description | <b>AIM:</b>To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract.<b>METHODS:</b> A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing.<b>RESULTS:</b> All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C>T variation in <i>EPHA2</i> gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls.<b>CONCLUSION:</b> We report a novel mutation (p. R890C) in the <i>EPHA2</i> receptor tyrosine kinase gene. The finding expands the mutation spectrum of <i>EPHA2</i> in association with posterior cataract. |
| first_indexed | 2024-04-12T06:41:56Z |
| format | Article |
| id | doaj.art-df7a66290e4f4b3d8c51c86de15ece02 |
| institution | Directory Open Access Journal |
| issn | 2222-3959 2227-4898 |
| language | English |
| last_indexed | 2024-04-12T06:41:56Z |
| publishDate | 2013-02-01 |
| publisher | Press of International Journal of Ophthalmology (IJO PRESS) |
| record_format | Article |
| series | International Journal of Ophthalmology |
| spelling | doaj.art-df7a66290e4f4b3d8c51c86de15ece022022-12-22T03:43:43ZengPress of International Journal of Ophthalmology (IJO PRESS)International Journal of Ophthalmology2222-39592227-48982013-02-0161343810.3980/j.issn.2222-3959.2013.01.07A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese familyXing-Chao Shentu<b>AIM:</b>To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract.<b>METHODS:</b> A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing.<b>RESULTS:</b> All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C>T variation in <i>EPHA2</i> gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls.<b>CONCLUSION:</b> We report a novel mutation (p. R890C) in the <i>EPHA2</i> receptor tyrosine kinase gene. The finding expands the mutation spectrum of <i>EPHA2</i> in association with posterior cataract.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580246/EPHA2gene mutationposterior cataract |
| spellingShingle | Xing-Chao Shentu A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family International Journal of Ophthalmology EPHA2 gene mutation posterior cataract |
| title | A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family |
| title_full | A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family |
| title_fullStr | A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family |
| title_full_unstemmed | A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family |
| title_short | A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family |
| title_sort | novel p r890c mutation in epha2 gene associated with progressive childhood posterior cataract in a chinese family |
| topic | EPHA2 gene mutation posterior cataract |
| url | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580246/ |
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