A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family |
| |
| Authors: | Ping-Bo Ouyang Yuan Zhao Ying-Qian Peng Lu-Si Zhang Jian Cao Yun Li |
| |
| Affiliation: | Department of Ophthalmology, the Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, China,Department of Cardiovascular Surgery, the Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China,Department of Ophthalmology, the Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, China,Department of Ophthalmology, the Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, China,Department of Ophthalmology, the Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, China and Department of Ophthalmology, the Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China; Hunan Clinical Research Center of Ophthalmic Disease, Changsha 410011, Hunan Province, China |
| |
| Abstract: | AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.METHODS: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of FBN1 gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals.RESULTS: In the four-generation family, classic MFS phenotypes were observed in all 5 patients, 2 of them had peculiar phenotype of bilateral macular degeneration. Mutation screening in FBN1 identified a heterozygous missense mutation (c.3932A>G, p.Y1311C) with co-segregation. This mutation was found with the MFS phenotypes in all 5 patients but not in unaffected members or unrelated controls.CONCLUSION: A Chinese consanguineous MFS family with uncommon bilateral macular degeneration and an unreported c.3932A>G mutation in FBN1 was identified. Our finding expands the FBN1 mutation spectrum and its possible role in the pathogenesis of Marfan syndrome. |
| |
| Keywords: | Marfan syndrome fibrillin-1 autosomal dominant heterozygous mutation |
|
| 点击此处可从《国际眼科》浏览原始摘要信息 |
|
点击此处可从《国际眼科》下载免费的PDF全文 |
|
