Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome
Purpose. To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. Methods. Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the produc...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2017/5078079 |
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| _version_ | 1832567156779253760 |
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| author | Kuanshu Li Liu Yang Ying Liu Ding Lin |
| author_facet | Kuanshu Li Liu Yang Ying Liu Ding Lin |
| author_sort | Kuanshu Li |
| collection | DOAJ |
| description | Purpose. To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. Methods. Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found. Results. Through the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. The mutation (c.-10-30T>C) was identified in PITX2 in subjects III-1 and III-3. Conclusions. We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future. |
| format | Article |
| id | doaj-art-24924d2267044e26ab03bfc048c01d66 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-24924d2267044e26ab03bfc048c01d662025-02-03T01:02:16ZengWileyJournal of Ophthalmology2090-004X2090-00582017-01-01201710.1155/2017/50780795078079Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger SyndromeKuanshu Li0Liu Yang1Ying Liu2Ding Lin3Aier School of Ophthalmology, Central South University, Changsha, ChinaAier School of Ophthalmology, Central South University, Changsha, ChinaAier Eye Hospital, Changsha, Hunan, ChinaAier School of Ophthalmology, Central South University, Changsha, ChinaPurpose. To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. Methods. Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found. Results. Through the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. The mutation (c.-10-30T>C) was identified in PITX2 in subjects III-1 and III-3. Conclusions. We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.http://dx.doi.org/10.1155/2017/5078079 |
| spellingShingle | Kuanshu Li Liu Yang Ying Liu Ding Lin Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome Journal of Ophthalmology |
| title | Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome |
| title_full | Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome |
| title_fullStr | Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome |
| title_full_unstemmed | Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome |
| title_short | Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome |
| title_sort | novel genetic findings in a chinese family with axenfeld rieger syndrome |
| url | http://dx.doi.org/10.1155/2017/5078079 |
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