A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family
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Yun Li. Department of Ophthalmology, the Second Xiangya Hospital of Central South University, 139 Middle Renmin Road, Changsha 410011, Hunan Province, China. yun.li@csu.edu.cn

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Supported by National Natural Science Foundation of China (No.81300798); Project supported by the Natural Science Foundation of Hunan Province, China (No.2018JJ3737); Department of Science and Technology, Hunan (No.2015TP2007).

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    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.

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Ping-Bo Ouyang, Yuan Zhao, Ying-Qian Peng, et al. A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family. Int J Ophthalmol, 2019,12(5):725-730

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Publication History
  • Received:June 10,2018
  • Revised:December 17,2018
  • Adopted:
  • Online: March 27,2019
  • Published: