Advances in research of TGFBI-related granular corneal dystrophy

doi:10.3877/cma.j.issn.1674-0785.2020.11.016

Abstract

Abstract:

Granular corneal dystrophy (GCD) is a group of autosomal dominant genetic diseases and belongs to a more common category of corneal dystrophy. Studies have confirmed that mutations in the TGFBI gene can cause GCD. Mutations at different sites in the TGFBI gene can lead to different types of GCD. By reviewing the relevant literature, we summarize TGFBI-related GCD with regard to its pathogenic genes, typing and clinical manifestations, pathogenesis, and treatment.

Key words: TGFBI gene, Granular corneal dystrophy, Gene mutation

Haoliang Li, Shu Liang. Advances in research of TGFBI-related granular corneal dystrophy[J]. Chinese Journal of Clinicians(Electronic Edition), 2020, 14(11): 931-936.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhlcyszz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.1674-0785.2020.11.016

https://zhlcyszz.cma-cmc.com.cn/EN/Y2020/V14/I11/931

References 38

11	Folberg R, Alfonso E, Croxatto JO, et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families [J]. Ophthalmology, 1988, 95(1): 46-51.
12	Song JS, Lim DH, Chung ES, et al. Mutation analysis of the TGFBI gene in consecutive Korean patients with corneal dystrophies [J]. Ann Lab Med, 2015, 35(3): 336-340.
13	Yoshida S, Kumano Y, Yoshida A, et al. An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyusahu district of Japan [J]. Jpn J Ophthalmol, 2002, 46(4): 469-471.
14	Kim HS, Rim TH, Kim TI, et al. Association between visual acuity and the corneal area occupied by granular lesions, linear lesions, or diffuse haze in patients with granular corneal dystrophy type 2 [J]. Cornea, 2018, 37(5): 542-547.
15	Lohse E, Stock EL, Jones JC, et al. Reis-Bücklers' corneal dystrophy. Immunofluorescent and electron microscopic studies [J]. Cornea, 1989, 8(3): 200-209.
16	Yee RW, Sullivan LS, Lai HT, et al. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24 [J]. Genomics, 1997, 46(1): 152-154.
17	Yu YH, Qiu PJ, Zhu YN, et al. A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree [J]. BMC Ophthalmology, 2015, 15(1): 131.
18	Thapa N, Lee BH, Kim IS. TGFBIp/βig-h3 protein: A versatile matrix molecule induced by TGF-β [J]. Int J Biochem Cell Biol, 2007, 39(12): 2183-2194.
19	Poulsen ET, Nielsen NS, Scavenius C, et al. The serine protease HtrA1 cleaves misfolded transforming growth factor β-induced protein (TGFBIp) and induces amyloid formation [J]. J Biol Chem, 2019, 294(31): 11817-11828.
20	Stenvang M, Schafer NP, Malmos KG, et al. Corneal dystrophy mutations drive pathogenesis by targeting TGFBIp stability and solubility in a latent amyloid-forming domain [J]. J Mol Biol, 2018, 430(8): 1116-1140.
21	Choi SI, Maeng YS, Kim KS, et al. Autophagy is induced by raptor degradation via the ubiquitin/proteasome system in granular corneal dystrophy type 2 [J]. Biochem Biophys Res Commun, 2014, 450(4):1505-1511.
22	Kim SY, Yeo A, Noh H, et al. Downregulation of IL-7 and IL-7R reduces membrane-type matrix metalloproteinase 14 in granular corneal dystrophy type 2 keratocyte [J]. Invest Ophthalmol Vis Sci, 2018, 59(13): 5693-5703.
23	Morand S, Buchillier V, Maurer F, et al. Induction of apoptos is in human corneal and HeLa cells by mutated BIGH3 [J]. Invest Ophthalmol Vis Sci, 2003, 44(7): 2973-2979.
24	Poulsen ET, Nielsen NS, Jensen MM, et al. LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp) [J]. Proteomics, 2016, 16(3): 539-543.
25	Zeng L, Zhao J, Chen Y, et al. Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study [J]. BMC Ophthalmology, 2019, 19(1): 191.
26	Nakamura T, Kataoka T, Kojima T, et al. Refractive outcomes after phototherapeutic refractive keratectomy for granular corneal dystrophy [J]. Cornea, 2018, 37(5): 548-553.
1	Lin ZN, Chen J, Cui HP. Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives [J]. Int J Ophthalmol, 2016, 9(6): 904-913.
2	Weiss JS, Moller HU, Aldave AJ, et al. IC3D classification of corneal dystrophies——edition 2 [J]. Cornea, 2015, 34(2): 117-159.
3	LeBaron RG, Bezverkov KI, Zimber MP, et al. Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro [J]. J Invest Dermatol, 1995, 104(5): 844-849.
4	Munier FL, Schorderet DF. Chromosome 5q31 linked corneal dystrophies: outline for a new classification [J]. Klin Monbl Augenheilkd, 2001, 218(3): 136-139.
5	Ferguson JW, Mikesh MF, Wheeler EF, et al. Developmental expression patterns of Beta-ig (betaIG-H3) and its function as a cell adhesion protein [J]. Mech Dev, 2003, 120(8): 851-864.
6	Guo SK, Shen MF, Yao HW, et al. Enhanced expression of TGFBI promotes the proliferation and migration of glioma cells [J]. Cell Physiol Biochem, 2018, 49(3): 1097-1109.
7	Lee W, Ku SK, Bae JS. Ameliorative effect of vicenin-2 and scolymoside on TGFBIp-induced septic responses [J]. Inflammation, 2015, 38(6): 2166-2177.
8	Hao XD, Zhang YY, Chen P, et al. Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients [J]. Int J Ophthalmol, 2016, 9(2): 198-203.
9	Bouyacoub Y, Falfoul Y, Ouederni M, et al. Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene [J]. Ophthalmic Genet, 2019, 40(4): 329-337.
10	Kheir V, Cortés-González V, Zenteno JC, et al. Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies [J]. Hum Mutat, 2019, 40(6): 675-693.
27	Reda Ahmed. 深板层角膜移植与穿透性角膜移植治疗基质性角膜营养不良 [J]. 国际眼科杂志, 2020, 20(7): 1118-1125.
28	苏慧, 余鹏, 王坤, 等. 深板层角膜移植术治疗基质层角膜营养不良的效果 [J]. 中华眼外伤职业眼病杂志, 2019, 11(11): 818-821.
29	Mashima Y, Kawai M, Yamada M. Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty [J]. Br J Ophthalmol, 2002, 86(3): 273-275.
30	Taketani Y, Kitamoto K, Sakisaka T, et al. Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair [J]. Sci Rep, 2017, 7(1): 16713.
31	Salaris F, Rosa A. Construction of 3D in vitro models by bioprinting human pluripotent stem cells: Challenges and opportunities [J]. Brain Res, 2019, 172(3): 146393.
32	Mehta JS, Kocaba V, Soh YQ. The future of keratoplasty: cell-based therapy, regenerative medicine, bioengineering keratoplasty, gene therapy [J]. Curr Opin Ophthalmol, 2019, 30(4): 286-291.
33	Zhou H, Wang Z, Cao H, et al. Genipin-crosslinked polyvinyl alcohol/silk fibroin/nano-hydroxyapatite hydrogel for fabrication of artificial cornea scaffolds-a novel approach to corneal tissue engineering [J]. J Biomater Sci Polym Ed, 2019, 30(17): 1604-1619.
34	Desjardins P, Couture C, Germain L, et al. Contribution of the WNK1 kinase to corneal wound healing using the tissue-engineered human cornea as an in vitro model [J]. J Tissue Eng Regen Med, 2019, 13(9): 1595-1608.
35	Maeng YS, Lee R, Lee B, et al. Lithium inhibits tumor lymphangiogenesis and metastasis through the inhibition of TGFBIp expression in cancer cells [J]. Sci Rep, 2016, 9(6): 20739.
36	Nie D, Peng Y, Li M, et al. Lithium chloride (LiCl) induced autophagy and downregulated expression of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy [J]. Exp Eye Res, 2018, 173(8): 44-50.
37	聂丹瑶, 黎明, 叶琳, 等. 氯化锂通过TGFBI促进角膜基质成纤维细胞增殖和自噬 [J]. 国际眼科杂志, 2019, 19(11): 1840-1843.
38	Hatou S, Shimmura S. Review: corneal endothelial cell derivation methods from ES/iPS cells [J]. Inflamm Regen, 2019, 3(39): 19.

[1]	Tiantian Chen, Xiaodong Wang, Haiyan Yu. Pregnancy outcome of twin pregnancy with Gitelman syndrome: a case report and literature review [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(05): 559-568.
[2]	Lulan Kan, Maoqiang Tian, Yimi Tang. Children with mild Gitelman syndrome presenting with recurrent abdominal pain: a case report and literature review [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(04): 473-479.
[3]	Jialin Mu, Xuefei Leng, Fei Tian, Lina Wang, Zhihong Chen. Sotos syndeome with a novel mutation in NSD1 gene: a case report and domestic literature review [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(06): 692-702.
[4]	Xufeng Luo, Jianxiang Liao, Zhiqiang Luo, Jing Duan, Yongli Li, Jianfang Xu, Li Chen. Na⁺ channel blockers in treatment of early-onset epileptic encephalopathy caused by SCN2A gene variation: a case report and literature review [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(05): 585-590.
[5]	Mu Du, Xiaobo Chen, Fuying Song, Ziqin Liu, Kun Qian. Clinical characteristics and genetic analysis of vitamin D-dependent rickets ⅠA caused by CYP27B1 gene mutation [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(02): 175-184.
[6]	Junhua Tuo, Hua Kang, Juanjuan Wang, Qin Zhang, Zhi Zhao. De novo mutation of fibrinogen 1 gene in neonatal Marfan syndrome: a case report and literature review [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2021, 17(03): 305-310.
[7]	Yutao Yuan, Jinlin Xing, Kefei Xie, Kai Yin. Correlation between CT findings and BRAF^V600E gene mutation and central lymph node metastasis in papillary thyroid carcinoma [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2023, 17(06): 611-614.
[8]	Haoli Fu, Cheng Zhang, Shuting Liang, Zequn Miao, Qingyu Meng, Lynzhen Huang, Lili Guo, Qianru Ouyang, Xin Xu, Yu Cao, Jingyi Zhang, Lejin Wang. Identificationon of a novel nonsense mutation of FRMD7 in a family with congenital nystagmus [J]. Chinese Journal of Ophthalmologic Medicine(Electronic Edition), 2022, 12(03): 152-157.
[9]	Ya’nan Dou, Xiaowei Fei, Jialiang Wei, Zhou Fei. Analysis of the expression and mutation of PARK2 in pan-cancer based on multiple databases [J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2021, 11(03): 139-146.
[10]	Cuiping Yang, Xiaojin Yang, Xu Quan, Ling Xie, Yunlin Wu, Ping Chen. Effects of hepatocyte nuclear factor-1α mutation and adenomatous polyposis coli mutation on familial adenomatous polyposis cell proliferation [J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2022, 12(04): 228-231.
[11]	Jing He, Jie Shi, Jiuluan Lin, Zhaohui Sun, Haixiang Wang, Bingqing Zhang, Yiou Liu, Xiancheng Song, Qian Feng, Jianjun Bai, Wenjing Zhou. Surgical treatment of tuberous sclerosis with refractory epilepsy in children [J]. Chinese Journal of Clinicians(Electronic Edition), 2021, 15(08): 597-600.
[12]	Yunjian Xu, Jianping Wang, Yongping Lin, Juhong Jiang. Feasibility and application of small volume nucleic acid sample to detect the EGFR mutation in peripheral blood from patients with advanced non-small cell lung cancer [J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2021, 09(03): 164-168.
[13]	Qian Wang, Yongping Wang, Xinpei Li, Chengyan Yang, Hui Xu, Fengjuan Sun, Yaping Liu. Diagnostic characteristics of hypokalemia with gene mutations [J]. Chinese Journal of Diagnostics(Electronic Edition), 2023, 11(02): 115-119.
[14]	Wenxia Shi, Yongxin Guo, Junjie Shen, Wenming Chen, Wenwen Guo, Tongfeng Zhao, Dandan Zhao, Jian Chen, Zhongliang Sun, Daoping Sun. The impact of RUNX1 mutations on clinical characteristics, therapeutic efficacy, and prognosis in adults with acute myeloid leukemia [J]. Chinese Journal of Diagnostics(Electronic Edition), 2022, 10(03): 163-170.
[15]	Hui Huang, Weiyun Wang, Chen Cheng, Ya Liu, Xinlin Chen. Prenatal diagnostic characteristics and literature review of Meckel-Gruber syndrome [J]. Chinese Journal of Diagnostics(Electronic Edition), 2022, 10(02): 77-82.

Please choose a citation manager

Content to export