Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy
Purpose. To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. Methods. Ophthalmic examinations were performed, and genomic DNA was extracted from available family members. Whole exome sequencing of two members (the proband and her unaffected mother) and Sanger...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2021/6684045 |
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| _version_ | 1832560666661093376 |
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| author | Qin Xiang Yanna Cao Hongbo Xu Zhijian Yang Liang Tang Ju Xiang Jianming Li Hao Deng Lamei Yuan |
| author_facet | Qin Xiang Yanna Cao Hongbo Xu Zhijian Yang Liang Tang Ju Xiang Jianming Li Hao Deng Lamei Yuan |
| author_sort | Qin Xiang |
| collection | DOAJ |
| description | Purpose. To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. Methods. Ophthalmic examinations were performed, and genomic DNA was extracted from available family members. Whole exome sequencing of two members (the proband and her unaffected mother) and Sanger sequencing in available family members were performed to screen potential pathogenic variants. Results. Novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the major facilitator superfamily domain containing 8 gene (MFSD8) were suspected to be involved in this family’s macular dystrophy phenotype. The novel c.1066C>T variant in the MFSD8 gene probably resulted in substitution of serine for proline at the 356th residue and was predicted to be “uncertain significance” through in silico analyses. The novel c.1102+2T>C variant in the MFSD8 gene was likely to affect the splicing form and predicted to be “pathogenic.” Conclusion. The novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the MFSD8 gene are likely responsible for the isolated macular dystrophy phenotype in this family. This study enlarged the MFSD8 gene mutant spectrum and might provide more accurate genetic counseling for this family. |
| format | Article |
| id | doaj-art-58d195cddb564de982491a7b178a6d02 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-58d195cddb564de982491a7b178a6d022025-02-03T01:27:05ZengWileyJournal of Ophthalmology2090-004X2090-00582021-01-01202110.1155/2021/66840456684045Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular DystrophyQin Xiang0Yanna Cao1Hongbo Xu2Zhijian Yang3Liang Tang4Ju Xiang5Jianming Li6Hao Deng7Lamei Yuan8Department of Basic Biology, Changsha Medical 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 Neuroscience and Behavior, Changsha Medical University, Changsha, ChinaCenter for Neuroscience and Behavior, Changsha Medical University, Changsha, ChinaDepartment of Basic Biology, Changsha Medical 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, ChinaPurpose. To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. Methods. Ophthalmic examinations were performed, and genomic DNA was extracted from available family members. Whole exome sequencing of two members (the proband and her unaffected mother) and Sanger sequencing in available family members were performed to screen potential pathogenic variants. Results. Novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the major facilitator superfamily domain containing 8 gene (MFSD8) were suspected to be involved in this family’s macular dystrophy phenotype. The novel c.1066C>T variant in the MFSD8 gene probably resulted in substitution of serine for proline at the 356th residue and was predicted to be “uncertain significance” through in silico analyses. The novel c.1102+2T>C variant in the MFSD8 gene was likely to affect the splicing form and predicted to be “pathogenic.” Conclusion. The novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the MFSD8 gene are likely responsible for the isolated macular dystrophy phenotype in this family. This study enlarged the MFSD8 gene mutant spectrum and might provide more accurate genetic counseling for this family.http://dx.doi.org/10.1155/2021/6684045 |
| spellingShingle | Qin Xiang Yanna Cao Hongbo Xu Zhijian Yang Liang Tang Ju Xiang Jianming Li Hao Deng Lamei Yuan Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy Journal of Ophthalmology |
| title | Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy |
| title_full | Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy |
| title_fullStr | Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy |
| title_full_unstemmed | Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy |
| title_short | Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy |
| title_sort | novel mfsd8 variants in a chinese family with nonsyndromic macular dystrophy |
| url | http://dx.doi.org/10.1155/2021/6684045 |
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