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Article

TGFBI gene mutations analysis in Chinese families with corneal dystrophies

  • Authors:
    • Xiaojuan Wang
    • Ming Ying
    • Changbo Fu
    • Yuchuan Wang
    • Ningdong Li
  • View Affiliations / Copyright

    Affiliations: Xuzhou Eye Institute, The First People's Hospital of Xuzhou, Xuzhou, Jiangsu 221000, P.R. China, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, P.R. China
  • Pages: 3198-3202
    |
    Published online on: March 30, 2017
       https://doi.org/10.3892/mmr.2017.6414
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Abstract

The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination. Sections of the cornea were used for biopsy following keratoplasty. Three types of TGFBI gene mutations, R124C, H626R and R124H, were detected in the patients from these three families. One family, with the R124C mutation, was diagnosed with lattice corneal dystrophy type 1, and the family with the H626R mutation was diagnosed with lattice corneal dystrophy type IIIB. The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2. The TGFBI gene mutations were considered underlying factors in the molecular mechanism underlying the pathogenesis of cornea dystrophy. Therefore, the detection of TGFBI gene mutations may be useful in the differential diagnosis of CD.
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1 

Weiss JS: Molecular genetics and the classification of the corneal dystrophies: What is next? Am J Ophthalmol. 148:477–478. 2009. View Article : Google Scholar : PubMed/NCBI

2 

Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, et al: The IC3D classification of the corneal dystrophies. Cornea. 27:(Suppl 2). S1–S83. 2008.(In English, Spanish). View Article : Google Scholar : PubMed/NCBI

3 

Klintworth GK: Corneal dystrophies. Orphanet J Rare Dis. 4:72009. View Article : Google Scholar : PubMed/NCBI

4 

Klintworth GK: The molecular genetics of the corneal dystrophies-current status. Front Biosci. 8:d687–d713. 2003. View Article : Google Scholar : PubMed/NCBI

5 

Aldave AJ and Sonmez B: Elucidating the molecular genetic basis of the corneal dystrophies: Are we there yet? Arch Ophthalmol. 125:177–186. 2007. View Article : Google Scholar : PubMed/NCBI

6 

Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G and Schorderet DF: Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:247–251. 1997. View Article : Google Scholar : PubMed/NCBI

7 

Cho KJ, Mok JW, Na KS, Rho CR, Byun YS, Hwang HS, Hwang KY and Joo CK: TGFBI gene mutations in a Korean population with corneal dystrophy. Mol Vis. 18:2012–2021. 2012.PubMed/NCBI

8 

Tian X, Fujiki K, Zhang Y, Murakami A, Li Q, Kanai A, Wang W, Hao Y and Ma Z: A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. Am J Ophthalmol. 144:473–475. 2007. View Article : Google Scholar : PubMed/NCBI

9 

Tian X, Fujiki K, Wang W, Murakami A, Xie P, Kanai A and Liu Z: Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. Jpn J Ophthalmol. 49:84–88. 2005. View Article : Google Scholar : PubMed/NCBI

10 

Yang QN, Zhao YW, Guo LH, Yan NH, Liu XY and Cai SP: Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy. Int J Ophthalmol. 4:235–238. 2011.PubMed/NCBI

11 

Patel DA, Chang SH, Harocopos GJ, Vora SC, Thang DH and Huang AJ: Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp. Cornea. 29:1215–1222. 2010. View Article : Google Scholar : PubMed/NCBI

12 

Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Héon E, Black GC, Blasi MA, Balestrazzi E, et al: BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 43:949–954. 2002.PubMed/NCBI

13 

Stix B, Leber M, Bingemer P, Gross C, Rüschoff J, Fändrich M, Schorderet DF, Vorwerk CK, Zacharias M, Roessner A and Röcken C: Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. Invest Ophthalmol Vis Sci. 46:1133–1139. 2005. View Article : Google Scholar : PubMed/NCBI

14 

Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD and Purchio AF: cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol. 11:511–522. 1992. View Article : Google Scholar : PubMed/NCBI

15 

Kim HS, Yoon SK, Cho BJ, Kim EK and Joo CK: BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy. Cornea. 20:844–849. 2001. View Article : Google Scholar : PubMed/NCBI

16 

Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ and Ridgway AA: A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology. 106:964–970. 1999. View Article : Google Scholar : PubMed/NCBI

17 

Liu Z, Wang YQ, Gong QH and Xie LX: An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. Mol Vis. 14:1234–1239. 2008.PubMed/NCBI

18 

Chau HM, Ha NT, Cung LX, Thanh TK, Fujiki K, Murakami A and Kanai A: H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. Br J Ophthalmol. 87:686–689. 2003. View Article : Google Scholar : PubMed/NCBI

19 

Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M and Ma X: Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature. Mol Vis. 16:1186–1193. 2010.PubMed/NCBI

20 

Wang D, Yao Y, Zhang M and Chen J: Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype. Eye Sci. 28:144–147. 2013.PubMed/NCBI

21 

Gu Z, Zhao P, He G, Wan C, Ma G, Yu L, Zhang J, Feng G, He L and Gao L: An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. Mol Vis. 17:3200–3207. 2011.PubMed/NCBI

22 

Abazi Z, Magarasevic L, Grubisa I and Risovic D: Individual phenotypic variances in a family with Avellino corneal dystrophy. BMC Ophthalmol. 13:302013. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Wang X, Ying M, Fu C, Wang Y and Li N: TGFBI gene mutations analysis in Chinese families with corneal dystrophies. Mol Med Rep 15: 3198-3202, 2017.
APA
Wang, X., Ying, M., Fu, C., Wang, Y., & Li, N. (2017). TGFBI gene mutations analysis in Chinese families with corneal dystrophies. Molecular Medicine Reports, 15, 3198-3202. https://doi.org/10.3892/mmr.2017.6414
MLA
Wang, X., Ying, M., Fu, C., Wang, Y., Li, N."TGFBI gene mutations analysis in Chinese families with corneal dystrophies". Molecular Medicine Reports 15.5 (2017): 3198-3202.
Chicago
Wang, X., Ying, M., Fu, C., Wang, Y., Li, N."TGFBI gene mutations analysis in Chinese families with corneal dystrophies". Molecular Medicine Reports 15, no. 5 (2017): 3198-3202. https://doi.org/10.3892/mmr.2017.6414
Copy and paste a formatted citation
x
Spandidos Publications style
Wang X, Ying M, Fu C, Wang Y and Li N: TGFBI gene mutations analysis in Chinese families with corneal dystrophies. Mol Med Rep 15: 3198-3202, 2017.
APA
Wang, X., Ying, M., Fu, C., Wang, Y., & Li, N. (2017). TGFBI gene mutations analysis in Chinese families with corneal dystrophies. Molecular Medicine Reports, 15, 3198-3202. https://doi.org/10.3892/mmr.2017.6414
MLA
Wang, X., Ying, M., Fu, C., Wang, Y., Li, N."TGFBI gene mutations analysis in Chinese families with corneal dystrophies". Molecular Medicine Reports 15.5 (2017): 3198-3202.
Chicago
Wang, X., Ying, M., Fu, C., Wang, Y., Li, N."TGFBI gene mutations analysis in Chinese families with corneal dystrophies". Molecular Medicine Reports 15, no. 5 (2017): 3198-3202. https://doi.org/10.3892/mmr.2017.6414
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