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Article Open Access

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma

  • Authors:
    • Fengyun Wang
    • Yang Li
    • Lan Lan
    • Bo Li
    • Li Lin
    • Xiaohe Lu
    • Jiping Li
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, Henan 471003, P.R. China, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing 100730, P.R. China, Department of Ophthalmology, Zhujing Hospital, Nanfang Medical University, Guangzhou, Guangdong 510515, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
  • Pages: 1230-1236
    |
    Published online on: March 13, 2015
       https://doi.org/10.3892/ijmm.2015.2138
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Abstract

Glaucoma is known to induce visual impairment and blindness. The aim of the present study was to determine the clinical and genetic findings of a family with primary open‑angle glaucoma (POAG). A family diagnosed with glaucoma was examined clinically and followed up for five years. Genomic DNA was extracted from the venous blood of 12 family members, and of 100 healthy individuals. The mode of inheritance was determined by the pedigree analysis. The third exon and its flanking introns of myocilin (MYOC) were amplified, and quantitative polymerase chain reaction (qPCR) products were sequenced. The restriction fragment length polymorphism analysis was performed on samples from the 12 family members and 100 normal controls. The predicted effects of the detected variants on the secondary structure of the MYOC protein were analyzed by the Garnier-Osguthorpe-Robson method. In this family, three members were diagnosed with POAG, and one member with ocular hypertension. The mode of inheritance of the family was autosomal dominant with six members being genetically affected. The heterozygous mutation was identified in the third exon of MYOC that revealed a T→C transition at position 1021 (p.S341P), which switched serine (Ser) to proline (Pro). This is a missense mutation eliminating a CviKI-1 restriction site that segregated the affected members. Secondary structure prediction of p.S341P suggested that the MYOC protein was misfolded. Ser341Pro MYOC mutation was detected in the family with POAG. The clinical and genetic characteristics of this mutation require further investigation. The mutation spectrum of MYOC may be expanded for a better diagnosis and treatment for POAG patients.
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1 

Hogewind BF, Gaplovska-Kysela K, Theelen T, Cremers FP, Yam GH, Hoyng CB and Mukhopadhyay A: Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands. Mol Vis. 13:1793–1801. 2007.PubMed/NCBI

2 

Fan BJ, Leung YF, Wang N, Lam SC, Liu Y, Tam OS and Pang CP: Genetic and environmental risk factors for primary open-angle glaucoma. Chin Med J (Engl). 117:706–710. 2004.

3 

Ge J: Glaucoma research progress and development trend. Chin J Ophthalmol. 36:192–196. 2000.

4 

Foster PJ, Oen FT, Machin D, Ng TP, Devereux JG, Johnson GJ, et al: The prevalence of glaucoma in Chinese residents of Singapore: a cross-sectional population survey of the Tanjong Pagar district. Arch Ophthalmol. 118:1105–1111. 2000. View Article : Google Scholar : PubMed/NCBI

5 

Wolfs RC, Klaver CC, Ramrattan RS, van Duijn CM, Hofman A and de Jong PT: Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol. 116:1640–1645. 1998. View Article : Google Scholar : PubMed/NCBI

6 

Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, et al: Identification of a gene that causes primary open angle glaucoma. Science. 275:668–670. 1997. View Article : Google Scholar : PubMed/NCBI

7 

Fan BJ, Wang DY, Lam DS and Pang CP: Gene mapping for primary open angle glaucoma. Clin Biochem. 39:249–258. 2006. View Article : Google Scholar

8 

Avisar I, Lusky M, Robinson A, Shohat M, Dubois S, Raymond V and Gaton DD: The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East. Mol Vis. 15:1945–1950. 2009.PubMed/NCBI

9 

Nguyen TD, Chen P, Huang WD, Chen H, Johnson D and Polansky JR: Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem. 273:6341–6350. 1998. View Article : Google Scholar : PubMed/NCBI

10 

Hewitt AW, Mackey DA and Craig JE: Myocilin allele-specific glaucoma phenotype database. Hum Mutat. 29:207–211. 2008. View Article : Google Scholar

11 

Mohanty Kuldeep, Mishra Swetasmita, Dada Rima and Dada Tanuj: Genetic Complexity of primary open-angle glaucoma. JOCGP. 5:31–39. 2011. View Article : Google Scholar

12 

Ma F, Wu Y and Xu X: Correlation analysis of some physial chemistry properties among genetic codons and amino acids. J Anhui Agric Univ. 30:439–445. 2003.

13 

Xie X, Zhou X, Qu X, Wen J, Tian Y and Zheng F: Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma. Mol Vis. 14:1666–1672. 2008.PubMed/NCBI

14 

Qin L and Li J: Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi. Yan Ke Xue Bao. 23:75–78. 2007.In Chinese. PubMed/NCBI

15 

Gong G, Kosoko-Lasaki O, Haynatzki GR and Wilson MR: Genetic dissection of myocilin glaucoma. Hum Mol Genet. 13(Spec 1): R91–R102. 2004. View Article : Google Scholar : PubMed/NCBI

16 

Chen Y, Jiang D, Wan B, Yu L and Sun X: Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma. Mol Vis. 12:360–366. 2006.PubMed/NCBI

17 

Zhuo YH, Wei YT, Bai YJ, Duan S, Lin MK, Saragovi HU and Ge J: Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype. Mol Vis. 14:1533–1539. 2008.PubMed/NCBI

18 

Fan BJ, Leung DY, Wang DY, Gobeil S, Raymond V, Tam PO, et al: Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. Arch Ophthalmol. 124:102–106. 2006. View Article : Google Scholar : PubMed/NCBI

19 

Fan BJ, Wang DY, Fan DS, Tam PO, Lam DS, Tham CC, Lam CY, Lau TC and Pang CP: SNPs and interaction analyses of myocilin, optineurin, and aplipoprotein E in primary open angle glaucoma patients. Mol Vis. 11:625–631. 2005.PubMed/NCBI

20 

Pang CP, Leung YF, Fan B, Baum L, Tong WC, Lee WS, et al: TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 43:3231–3235. 2002.PubMed/NCBI

21 

Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D and Heon E: Digenic Inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 70:448–460. 2002. View Article : Google Scholar : PubMed/NCBI

22 

Tian Q, Li FH, Zhao KX, Wang L, Shan XY, Pang YY, et al: A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 24:629–634. 2007.In Chinese. PubMed/NCBI

23 

Lam DS, Leung YF, Chua JK, Baum L, Fan DS, Choy KW and Pang CP: Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 41:1386–1391. 2000.PubMed/NCBI

24 

Zhao X, Yang C, Tong Y, Zhang X, Xu L and Li Y: Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma. Mol Vis. 16:1728–1735. PubMed/NCBI

25 

Wang DY, Fan BJ, Chua JK, Tam PO, Leung CK, Lam DS and Pang CP: A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q. Invest Ophthalmol Vis Sci. 47:5315–5321. 2006. View Article : Google Scholar : PubMed/NCBI

26 

Pang CP, Fan BJ, Canlas O, Wang DY, Dubois S, Tam PO, et al: A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q. Mol Vis. 12:85–92. 2006.PubMed/NCBI

27 

Lin Y, Liu T, Li J, Yang J, Du Q, Wang J, et al: A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15–16. Mol Vis. 14:739–744. 2008.PubMed/NCBI

28 

Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, et al: Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 130:165–177. 2000. View Article : Google Scholar : PubMed/NCBI

29 

Mardin CY, Velten I, Ozbey S, Rautenstrauss B and Michels Rautenstrauss K: A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma. J Glaucoma. 8:154–156. 1999. View Article : Google Scholar : PubMed/NCBI

30 

Baird PN, Richardson AJ, Craig JE, Rochtchina E, Mackey DA and Mitchell P: The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study. Am J Ophthalmol. 139:1125–1126. 2005. View Article : Google Scholar : PubMed/NCBI

31 

Fingert JH, Stone EM, Sheffield VC and Alward WL: Myocilin glaucoma. Surv Ophthalmol. 47:547–561. 2002. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Wang F, Li Y, Lan L, Li B, Lin L, Lu X and Li J: Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma. Int J Mol Med 35: 1230-1236, 2015.
APA
Wang, F., Li, Y., Lan, L., Li, B., Lin, L., Lu, X., & Li, J. (2015). Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma. International Journal of Molecular Medicine, 35, 1230-1236. https://doi.org/10.3892/ijmm.2015.2138
MLA
Wang, F., Li, Y., Lan, L., Li, B., Lin, L., Lu, X., Li, J."Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma". International Journal of Molecular Medicine 35.5 (2015): 1230-1236.
Chicago
Wang, F., Li, Y., Lan, L., Li, B., Lin, L., Lu, X., Li, J."Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma". International Journal of Molecular Medicine 35, no. 5 (2015): 1230-1236. https://doi.org/10.3892/ijmm.2015.2138
Copy and paste a formatted citation
x
Spandidos Publications style
Wang F, Li Y, Lan L, Li B, Lin L, Lu X and Li J: Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma. Int J Mol Med 35: 1230-1236, 2015.
APA
Wang, F., Li, Y., Lan, L., Li, B., Lin, L., Lu, X., & Li, J. (2015). Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma. International Journal of Molecular Medicine, 35, 1230-1236. https://doi.org/10.3892/ijmm.2015.2138
MLA
Wang, F., Li, Y., Lan, L., Li, B., Lin, L., Lu, X., Li, J."Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma". International Journal of Molecular Medicine 35.5 (2015): 1230-1236.
Chicago
Wang, F., Li, Y., Lan, L., Li, B., Lin, L., Lu, X., Li, J."Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma". International Journal of Molecular Medicine 35, no. 5 (2015): 1230-1236. https://doi.org/10.3892/ijmm.2015.2138
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