Clinical and genetic analysis of a pedigree with Wolfram syndrome
AIM: To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.METHODS: A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination, gene analysis and bioinformatics.RESULT: It was found that the prob...
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| Format: | Article |
| Language: | English |
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Press of International Journal of Ophthalmology (IJO PRESS)
2023-11-01
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| Series: | Guoji Yanke Zazhi |
| Subjects: | |
| Online Access: | http://ies.ijo.cn/cn_publish/2023/11/202311032.pdf |
| _version_ | 1797652610893742080 |
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| author | Zi-Jie Chen Yu-Kai Mao Ning Fan Yan-Fen Hong Xu-Yang Liu |
| author_facet | Zi-Jie Chen Yu-Kai Mao Ning Fan Yan-Fen Hong Xu-Yang Liu |
| author_sort | Zi-Jie Chen |
| collection | DOAJ |
| description | AIM: To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.METHODS: A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination, gene analysis and bioinformatics.RESULT: It was found that the proband and his brother had diabetes, color weakness and optic neuropathy. In addition, his brother had diabetes insipidus. Whole-exome sequencing(WES)analysis showed that there were two heterozygous variations in the WFS1 gene exon 8 of the two brothers: c.941G>A(p.W314X)and c.2309T>G(p.F770C), and were co-separated from the clinical phenotype in this family.CONCLUSION: The compound heterozygous mutation of WFS1 gene is associated with Wolfram syndrome in this pedigree. Among them, c.941G>A(p.W314X)has not been reported yet. |
| first_indexed | 2024-03-11T16:31:29Z |
| format | Article |
| id | doaj.art-b63f8a17a25c4e1a8397e8459297e5f9 |
| institution | Directory Open Access Journal |
| issn | 1672-5123 |
| language | English |
| last_indexed | 2024-03-11T16:31:29Z |
| publishDate | 2023-11-01 |
| publisher | Press of International Journal of Ophthalmology (IJO PRESS) |
| record_format | Article |
| series | Guoji Yanke Zazhi |
| spelling | doaj.art-b63f8a17a25c4e1a8397e8459297e5f92023-10-24T02:34:27ZengPress of International Journal of Ophthalmology (IJO PRESS)Guoji Yanke Zazhi1672-51232023-11-0123111930193410.3980/j.issn.1672-5123.2023.11.32202311032Clinical and genetic analysis of a pedigree with Wolfram syndromeZi-Jie Chen0Yu-Kai Mao1Ning Fan2Yan-Fen Hong3Xu-Yang Liu4Xiamen Eye Center of Xiamen University, Xiamen 361000, Fujian Province, ChinaSchool of Medical Technology and Engineering, Fujian Medical University, Fuzhou 350122, Fujian Province, ChinaShenzhen Eye Hospital, Jinan University, Shenzhen 518040, Guangdong Province, ChinaXiamen Eye Center of Xiamen University, Xiamen 361000, Fujian Province, ChinaXiamen Eye Center of Xiamen University, Xiamen 361000, Fujian Province, ChinaAIM: To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.METHODS: A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination, gene analysis and bioinformatics.RESULT: It was found that the proband and his brother had diabetes, color weakness and optic neuropathy. In addition, his brother had diabetes insipidus. Whole-exome sequencing(WES)analysis showed that there were two heterozygous variations in the WFS1 gene exon 8 of the two brothers: c.941G>A(p.W314X)and c.2309T>G(p.F770C), and were co-separated from the clinical phenotype in this family.CONCLUSION: The compound heterozygous mutation of WFS1 gene is associated with Wolfram syndrome in this pedigree. Among them, c.941G>A(p.W314X)has not been reported yet.http://ies.ijo.cn/cn_publish/2023/11/202311032.pdfwolfram syndromewfs1 genegenetic analysismutation |
| spellingShingle | Zi-Jie Chen Yu-Kai Mao Ning Fan Yan-Fen Hong Xu-Yang Liu Clinical and genetic analysis of a pedigree with Wolfram syndrome Guoji Yanke Zazhi wolfram syndrome wfs1 gene genetic analysis mutation |
| title | Clinical and genetic analysis of a pedigree with Wolfram syndrome |
| title_full | Clinical and genetic analysis of a pedigree with Wolfram syndrome |
| title_fullStr | Clinical and genetic analysis of a pedigree with Wolfram syndrome |
| title_full_unstemmed | Clinical and genetic analysis of a pedigree with Wolfram syndrome |
| title_short | Clinical and genetic analysis of a pedigree with Wolfram syndrome |
| title_sort | clinical and genetic analysis of a pedigree with wolfram syndrome |
| topic | wolfram syndrome wfs1 gene genetic analysis mutation |
| url | http://ies.ijo.cn/cn_publish/2023/11/202311032.pdf |
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