Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy
Background/Aims. Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers. So far, mutations in several genes have been responsible for various CDs. The purpo...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2019/2824179 |
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| author | Qin Xiang Lamei Yuan Yanna Cao Hongbo Xu Yunfeiyang Li Hao Deng |
| author_facet | Qin Xiang Lamei Yuan Yanna Cao Hongbo Xu Yunfeiyang Li Hao Deng |
| author_sort | Qin Xiang |
| collection | DOAJ |
| description | Background/Aims. Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers. So far, mutations in several genes have been responsible for various CDs. The purpose of this study is to identify gene mutations in a three-generation Hui-Chinese family associated with granular corneal dystrophy type I (GCD1). Methods. A three-generation Hui-Chinese pedigree with GCD1 was recruited for this study. Slit-lamp biomicroscopy, optical coherence tomography, and confocal microscopy were performed to determine the clinical features of available members. Whole exome sequencing was performed on two patients to screen for potential disease-causing variants in the family. Sanger sequencing was used to test the variant in the family members. Results. Clinical examinations demonstrated bilaterally abundant multiple grayish-white opacities in the basal epithelial and superficial stroma layers of corneas of the two patients. Whole exome sequencing revealed that a heterozygous missense mutation (c.1663C > T, p.Arg555Trp) in the transforming growth factor beta-induced gene (TGFBI) was shared by the two patients, and it cosegregated with this disease in the family confirmed by Sanger sequencing. Conclusions. The results suggested that the heterozygous TGFBI c.1663C > T (p.Arg555Trp) mutation was responsible for GCD1 in the Hui-Chinese family, which should be of great help in genetic counseling for this family. |
| format | Article |
| id | doaj-art-2dc7647bd47d43a3914d28d624ef15d5 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-2dc7647bd47d43a3914d28d624ef15d52025-02-03T06:01:34ZengWileyJournal of Ophthalmology2090-004X2090-00582019-01-01201910.1155/2019/28241792824179Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal DystrophyQin Xiang0Lamei Yuan1Yanna Cao2Hongbo Xu3Yunfeiyang Li4Hao Deng5Postdoctoral Research Station of Basic Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Ophthalmology, The Third Xiangya Hospital, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaBackground/Aims. Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers. So far, mutations in several genes have been responsible for various CDs. The purpose of this study is to identify gene mutations in a three-generation Hui-Chinese family associated with granular corneal dystrophy type I (GCD1). Methods. A three-generation Hui-Chinese pedigree with GCD1 was recruited for this study. Slit-lamp biomicroscopy, optical coherence tomography, and confocal microscopy were performed to determine the clinical features of available members. Whole exome sequencing was performed on two patients to screen for potential disease-causing variants in the family. Sanger sequencing was used to test the variant in the family members. Results. Clinical examinations demonstrated bilaterally abundant multiple grayish-white opacities in the basal epithelial and superficial stroma layers of corneas of the two patients. Whole exome sequencing revealed that a heterozygous missense mutation (c.1663C > T, p.Arg555Trp) in the transforming growth factor beta-induced gene (TGFBI) was shared by the two patients, and it cosegregated with this disease in the family confirmed by Sanger sequencing. Conclusions. The results suggested that the heterozygous TGFBI c.1663C > T (p.Arg555Trp) mutation was responsible for GCD1 in the Hui-Chinese family, which should be of great help in genetic counseling for this family.http://dx.doi.org/10.1155/2019/2824179 |
| spellingShingle | Qin Xiang Lamei Yuan Yanna Cao Hongbo Xu Yunfeiyang Li Hao Deng Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy Journal of Ophthalmology |
| title | Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy |
| title_full | Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy |
| title_fullStr | Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy |
| title_full_unstemmed | Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy |
| title_short | Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy |
| title_sort | identification of a heterozygous mutation in the tgfbi gene in a hui chinese family with corneal dystrophy |
| url | http://dx.doi.org/10.1155/2019/2824179 |
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