A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts
AIM: To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation. METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mu...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Press of International Journal of Ophthalmology (IJO PRESS)
2016-11-01
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| Series: | International Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ijo.cn/en_publish/2016/11/20161105.pdf |
| _version_ | 1817996951212261376 |
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| author | Feng-Tao Dang Fa-Yu Yang Ye-Qin Yang Xiang-Lian Ge Ding Chen Liu Zhang Xin-Ping Yu Feng Gu Yi-Hua Zhu |
| author_facet | Feng-Tao Dang Fa-Yu Yang Ye-Qin Yang Xiang-Lian Ge Ding Chen Liu Zhang Xin-Ping Yu Feng Gu Yi-Hua Zhu |
| author_sort | Feng-Tao Dang |
| collection | DOAJ |
| description | AIM: To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation.
METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction (PCR) of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for connexin 50 (Cx50), were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy.
RESULTS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by PCR of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for Cx50, were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy.
CONCLUSION: This study has identified a novel cataract mutation in GJA8, which adds a novel mutation to the existing spectrum of Cx50 mutations with cataract. The molecular consequences of p.F32I mutation in GJA8 exclude instability and the mislocalization of mutant Cx50 protein. |
| first_indexed | 2024-04-14T02:29:56Z |
| format | Article |
| id | doaj.art-639b91bb19154e85ab3a10f1fc680bf8 |
| institution | Directory Open Access Journal |
| issn | 2222-3959 2227-4898 |
| language | English |
| last_indexed | 2024-04-14T02:29:56Z |
| publishDate | 2016-11-01 |
| publisher | Press of International Journal of Ophthalmology (IJO PRESS) |
| record_format | Article |
| series | International Journal of Ophthalmology |
| spelling | doaj.art-639b91bb19154e85ab3a10f1fc680bf82022-12-22T02:17:42ZengPress of International Journal of Ophthalmology (IJO PRESS)International Journal of Ophthalmology2222-39592227-48982016-11-019111561156710.18240/ijo.2016.11.05A novel mutation of p.F32I in GJA8 in human dominant congenital cataractsFeng-Tao Dang0Fa-Yu Yang1Ye-Qin Yang2Xiang-Lian Ge3Ding Chen4Liu Zhang5Xin-Ping Yu6Feng Gu7Yi-Hua Zhu8Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, ChinaSchool of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, ChinaSchool of Nursing, Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, ChinaSchool of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, ChinaSchool of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, ChinaDepartment of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, ChinaSchool of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, ChinaSchool of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, ChinaDepartment of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, ChinaAIM: To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation. METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction (PCR) of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for connexin 50 (Cx50), were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy. RESULTS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by PCR of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for Cx50, were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy. CONCLUSION: This study has identified a novel cataract mutation in GJA8, which adds a novel mutation to the existing spectrum of Cx50 mutations with cataract. The molecular consequences of p.F32I mutation in GJA8 exclude instability and the mislocalization of mutant Cx50 protein.http://www.ijo.cn/en_publish/2016/11/20161105.pdfcataractsmutationconnexin 50GJA8molecular consequencesmolecular consequences |
| spellingShingle | Feng-Tao Dang Fa-Yu Yang Ye-Qin Yang Xiang-Lian Ge Ding Chen Liu Zhang Xin-Ping Yu Feng Gu Yi-Hua Zhu A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts International Journal of Ophthalmology cataracts mutation connexin 50 GJA8 molecular consequences molecular consequences |
| title | A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts |
| title_full | A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts |
| title_fullStr | A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts |
| title_full_unstemmed | A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts |
| title_short | A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts |
| title_sort | novel mutation of p f32i in gja8 in human dominant congenital cataracts |
| topic | cataracts mutation connexin 50 GJA8 molecular consequences molecular consequences |
| url | http://www.ijo.cn/en_publish/2016/11/20161105.pdf |
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