FBN2基因突变与遗传性结缔组织病的发生

doi:10.16288/j.yczz.19-052

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Hereditas(Beijing) ›› 2019, Vol. 41 ›› Issue (10): 919-927.doi: 10.16288/j.yczz.19-052

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Fibrillin-2 gene mutations associated with hereditary connective tissue diseases

Furu Xu^1,²,Wenjun Jiang^2,³,Tao Zhang^1,^2,³,Qian Jiang^1,^2,³,Ruixue Zhang^1,^2,³,Hongsheng Bi^1,^2,^3,⁴()

^1. Shandong University of Traditional Chinese Medicine, Jinan 250014, China
^2. Shandong Pvovince Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Therapy of Ocular Disease, Jinan 250002, China
^3. Institute of Shandong University of Traditional Chinese, Jinan 250002, China
^4. Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine, Jinan 250002, China

Received:2019-04-08 Revised:2019-05-30 Online:2019-10-20 Published:2019-06-03
Contact: Bi Hongsheng E-mail:hongshengbi@126.com
Supported by:
Supported by the National Natural Science Foundation of China No.(81603421);Shandong Province Key Research and Devlepment Program No.(2016GGH3119);Shandong Province Key Research and Devlepment Program No.(2017CXGC1211)

Abstract

Abstract:

Fibrillin-2 (FBN2) is an important component of microfibers which are involved in the formation of elastic fibers in connective tissue throughout the human body. Hereditary connective tissue diseases may result from genetic mutations of FBN2 causing heterogeneity of fibrin. Genetic mutations of FBN2 are associated with a variety of hereditary connective tissue diseases including Congenital Contractural Arachnodactyl (CCA), Macular Degeneration (MD), and myopathy. Studies have shown that the FBN2 gene is recognized as the only pathogenic gene related to CCA and that CCA patients have different clinical presentations depending on the identified genetic mutations at different FBN2 sites. In this review, we summarize the roles of FBN2, its mutations and impact on the physiological and pathological processes of many hereditary connective tissue diseases. We include brief descriptions of clinical manifestations of these diseases providing a basis for further exploration of the specific molecular mechanism of FBN2 gene mutation pathogenesis which provides a theoretical basis for the therapy and medications for refractory diseases caused by FBN2 gene mutation.

Key words: fibrillin-2, gene mutation, congenital contracture arachnoid, macular degeneration, genetic

Furu Xu, Wenjun Jiang, Tao Zhang, Qian Jiang, Ruixue Zhang, Hongsheng Bi. Fibrillin-2 gene mutations associated with hereditary connective tissue diseases[J]. Hereditas(Beijing), 2019, 41(10): 919-927.

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Fibrillin-2 gene mutations associated with hereditary connective tissue diseases

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