5.9
CiteScore
5.9
Impact Factor
Volume 46 Issue 7
Jul.  2019
Turn off MathJax
Article Contents

Rare variants in novel and known genes associated with primary angle closure glaucoma based on whole exome sequencing of 549 probands

doi: 10.1016/j.jgg.2019.06.004
More Information
  • Corresponding author: E-mail address: drliuxing@163.com (Xing Liu); E-mail address: zhangqingjiong@gzzoc.com (Qingjiong Zhang)
  • Received Date: 2019-05-31
  • Accepted Date: 2019-06-20
  • Rev Recd Date: 2019-06-11
  • Available Online: 2019-07-10
  • Publish Date: 2019-07-20
  • These authors contribute equally.
  • loading
  • [1]
    Bermudez, J.Y., Montecchi-Palmer, M., Mao, W., Clark, A.F., 2017. Cross-linked actin networks (CLANs) in glaucoma. Exp. Eye Res. 159, 16-22.
    [2]
    Burgoyne, C., Tello, C., Katz, L.J., 2002. Nanophthalmia and chronic angle-closure glaucoma. J. Glaucoma 11, 525-528.
    [3]
    Choi, H.J., Sun, D., Jakobs, T.C., 2015. Astrocytes in the optic nerve head express putative mechanosensitive channels. Mol. Vis. 21, 749-766.
    [4]
    Faivre, L., Gorlin, R.J., Wirtz, M.K., Godfrey, M., Dagoneau, N., Samples, J.R., Le Merrer, M., Collod-Beroud, G., Boileau, C., Munnich, A., Cormier-Daire, V., 2003. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J. Med. Genet. 40, 34-36.
    [5]
    Gramer, G., Weber, B.H., Gramer, E., 2014. Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients. Invest. Ophthalmol. Vis. Sci. 55, 259-264.
    [6]
    Huang, X.F., Tu, C.S., Xing, D.J., Gan, D.K., Xu, G.Z., Jin, Z.B., 2014. R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma. Int. J. Ophthalmol. 7, 169-172.
    [7]
    Khor, C.C., Do, T., Jia, H., Nakano, M., George, R., Abu-Amero, K., Duvesh, R., Chen, L.J., Li, Z., Nongpiur, M.E., Perera, S.A., Qiao, C., Wong, H.T., Sakai, H., Barbosa de Melo, M., Lee, M.C., Chan, A.S., Azhany, Y., Dao, T.L., Ikeda, Y., Perez-Grossmann, R.A., Zarnowski, T., Day, A.C., Jonas, J.B., Tam, P.O., Tran, T.A., Ayub, H., Akhtar, F., Micheal, S., Chew, P.T., Aljasim, L.A., Dada, T., Luu, T.T., Awadalla, M.S., Kitnarong, N., Wanichwecharungruang, B., Aung, Y.Y., Mohamed-Noor, J., Vijayan, S., Sarangapani, S., Husain, R., Jap, A., Baskaran, M., Goh, D., Su, D.H., Wang, H., Yong, V.K., Yip, L.W., Trinh, T.B., Makornwattana, M., Nguyen, T.T., Leuenberger, E.U., Park, K.H., Wiyogo, W.A., Kumar, R.S., Tello, C., Kurimoto, Y., Thapa, S.S., Pathanapitoon, K., Salmon, J.F., Sohn, Y.H., Fea, A., Ozaki, M., Lai, J.S., Tantisevi, V., Khaing, C.C., Mizoguchi, T., Nakano, S., Kim, C.Y., Tang, G., Fan, S., Wu, R., Meng, H., Nguyen, T.T., Tran, T.D., Ueno, M., Martinez, J.M., Ramli, N., Aung, Y.M., Reyes, R.D., Vernon, S.A., Fang, S.K., Xie, Z., Chen, X.Y., Foo, J.N., Sim, K.S., Wong, T.T., Quek, D.T., Venkatesh, R., Kavitha, S., Krishnadas, S.R., Soumittra, N., Shantha, B., Lim, B.A., Ogle, J., de Vasconcellos, J.P., Costa, V.P., Abe, R.Y., de Souza, B.B., Sng, C.C., Aquino, M.C., Kosior-Jarecka, E., Fong, G.B., Tamanaja, V.C., Fujita, R., Jiang, Y., Waseem, N., Low, S., Pham, H.N., Al-Shahwan, S., Craven, E.R., Khan, M.I., Dada, R., Mohanty, K., Faiq, M.A., Hewitt, A.W., Burdon, K.P., Gan, E.H., Prutthipongsit, A., Patthanathamrongkasem, T., Catacutan, M.A., Felarca, I.R., Liao, C.S., Rusmayani, E., Istiantoro, V.W., Consolandi, G., Pignata, G., Lavia, C., Rojanapongpun, P., Mangkornkanokpong, L., Chansangpetch, S., Chan, J.C., Choy, B.N., Shum, J.W., Than, H.M., Oo, K.T., Han, A.T., Yong, V.H., Ng, X.Y., Goh, S.R., Chong, Y.F., Hibberd, M.L., Seielstad, M., Png, E., Dunstan, S.J., Chau, N.V., Bei, J., Zeng, Y.X., Karkey, A., Basnyat, B., Pasutto, F., Paoli, D., Frezzotti, P., Wang, J.J., Mitchell, P., Fingert, J.H., Allingham, R.R., Hauser, M.A., Lim, S.T., Chew, S.H., Ebstein, R.P., Sakuntabhai, A., Park, K.H., Ahn, J., Boland, G., Snippe, H., Stead, R., Quino, R., Zaw, S.N., Lukasik, U., Shetty, R., Zahari, M., Bae, H.W., Oo, N.L., Kubota, T., Manassakorn, A., Ho, W.L., Dallorto, L., Hwang, Y.H., Kiire, C.A., Kuroda, M., Djamal, Z.E., Peregrino, J.I., Ghosh, A., Jeoung, J.W., Hoan, T.S., Srisamran, N., Sandragasu, T., Set, S.H., Doan, V.H., Bhattacharya, S.S., Ho, C.L., Tan, D.T., Sihota, R., Loon, S.C., Mori, K., Kinoshita, S., Hollander, A.I., Qamar, R., Wang, Y.X., Teo, Y.Y., Tai, E.S., Hartleben-Matkin, C., Lozano-Giral, D., Saw, S.M., Cheng, C.Y., Zenteno, J.C., Pang, C.P., Bui, H.T., Hee, O., Craig, J.E., Edward, D.P., Yonahara, M., Neto, J.M., Guevara-Fujita, M.L., Xu, L., Ritch, R., Liza-Sharmini, A.T., Wong, T.Y., Al-Obeidan, S., Do, N.H., Sundaresan, P., Tham, C.C., Foster, P.J., Vijaya, L., Tashiro, K., Vithana, E.N., Wang, N., Aung, T., 2016. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat. Genet. 48, 556-562.
    [8]
    McMillin, M.J., Beck, A.E., Chong, J.X., Shively, K.M., Buckingham, K.J., Gildersleeve, H.I., Aracena, M.I., Aylsworth, A.S., Bitoun, P., Carey, J.C., Clericuzio, C.L., Crow, Y.J., Curry, C.J., Devriendt, K., Everman, D.B., Fryer, A., Gibson, K., Giovannucci Uzielli, M.L., Graham, J.M., Jr., Hall, J.G., Hecht, J.T., Heidenreich, R.A., Hurst, J.A., Irani, S., Krapels, I.P., Leroy, J.G., Mowat, D., Plant, G.T., Robertson, S.P., Schorry, E.K., Scott, R.H., Seaver, L.H., Sherr, E., Splitt, M., Stewart, H., Stumpel, C., Temel, S.G., Weaver, D.D., Whiteford, M., Williams, M.S., Tabor, H.K., Smith, J.D., Shendure, J., Nickerson, D.A., University of Washington Center for Mendelian, G., Bamshad, M.J., 2014. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am. J. Hum. Genet. 94, 734-744.
    [9]
    Ohlmann, A., Tamm, E.R., 2012. Norrin: molecular and functional properties of an angiogenic and neuroprotective growth factor. Prog. Retin. Eye Res. 31, 243-257.
    [10]
    Ouyang, P., Li, Y., Zhang, F., Zhu, C., Zou, B., Le, J., Zhang, L., 2018. A frameshift mutation in the CHM gene causes choroideremia with acute angleclosure glaucoma. Mol. Med. Rep. 17, 7918-7924.
    [11]
    Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H.L., Committee, A.L.Q.A., 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405-424.
    [12]
    Selvan, H., Swamy, D.R., Temkar, S., Venkatesh, P., Gupta, S., 2018. Familial exudative vitreoretinopathy and glaucoma: observations, insights, and management strategies. J. Glaucoma 27, e1-e6.
    [13]
    Song, P., Wang, J., Bucan, K., Theodoratou, E., Rudan, I., Chan, K.Y., 2017. National and subnational prevalence and burden of glaucoma in China: a systematic analysis. J. Glob. Health 7, 020705.
    [14]
    Tatton-Brown, K., Seal, S., Ruark, E., Harmer, J., Ramsay, E., Del Vecchio Duarte, S., Zachariou, A., Hanks, S., O'Brien, E., Aksglaede, L., Baralle, D., Dabir, T., Gener, B., Goudie, D., Homfray, T., Kumar, A., Pilz, D.T., Selicorni, A., Temple, I.K., Van Maldergem, L., Yachelevich, N., Childhood Overgrowth, C., van Montfort, R., Rahman, N., 2014. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat. Genet. 46, 385-388.
    [15]
    Vilar, M., Murillo-Carretero, M., Mira, H., Magnusson, K., Besset, V., Ibanez, C.F., 2006. Bex1, a novel interactor of the p75 neurotrophin receptor, links neurotrophin signaling to the cell cycle. EMBO J. 25, 1219-1230.
    [16]
    Vincent, A., McAlister, C., Vandenhoven, C., Heon, E., 2011. BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. Eye (Lond) 25, 113-118.
    [17]
    Vithana, E.N., Khor, C.C., Qiao, C., Nongpiur, M.E., George, R., Chen, L.J., Do, T., Abu-Amero, K., Huang, C.K., Low, S., Tajudin, L.A., Perera, S.A., Cheng, C.Y., Xu, L., Jia, H., Ho, C.L., Sim, K.S., Wu, R.Y., Tham, C.C.Y., Chew, P.T.K., Su, D.H., Oen, F.T., Sarangapani, S., Soumittra, N., Osman, E.A., Wong, H.T., Tang, G., Fan, S., Meng, H., Huong, D.T.L., Wang, H., Feng, B., Baskaran, M., Shantha, B., Ramprasad, V.L., Kumaramanickavel, G., Iyengar, S.K., How, A.C., Lee, K.Y., Sivakumaran, T.A., Yong, V.H.K., Ting, S.M.L., Li, Y., Wang, Y.X., Tay, W.T., Sim, X., Lavanya, R., Cornes, B.K., Zheng, Y.F., Wong, T.T., Loon, S.C., Yong, V.K.Y., Waseem, N., Yaakub, A., Chia, K.S., Allingham, R.R., Hauser, M.A., Lam, D.S.C., Hibberd, M.L., Bhattacharya, S.S., Zhang, M., Teo, Y.Y., Tan, D.T., Jonas, J.B., Tai, E.S., Saw, S.M., Hon, D.N., Al-Obeidan, S.A., Liu, J., Chau, T.N.B., Simmons, C.P., Bei, J.X., Zeng, Y.X., Foster, P.J., Vijaya, L., Wong, T.Y., Pang, C.P., Wang, N., Aung, T., 2012. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat. Genet. 44, 1142-1146.
    [18]
    Witteveen, J.S., Willemsen, M.H., Dombroski, T.C., van Bakel, N.H., Nillesen, W.M., van Hulten, J.A., Jansen, E.J., Verkaik, D., Veenstra-Knol, H.E., van Ravenswaaij-Arts, C.M., Wassink-Ruiter, J.S., Vincent, M., David, A., Le Caignec, C., Schieving, J., Gilissen, C., Foulds, N., Rump, P., Strom, T., Cremer, K., Zink, A.M., Engels, H., de Munnik, S.A., Visser, J.E., Brunner, H.G., Martens, G.J., Pfundt, R., Kleefstra, T., Kolk, S.M., 2016. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat. Genet. 48, 877-887.
    [19]
    Xiao, X., Sun, W., Ouyang, J., Li, S., Jia, X., Tan, Z., Hejtmancik, J.F., Zhang, Q., 2019. Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3. Hum. Genet.
    [20]
    Yu, C., Hu, Z., Li, J., Liu, T., Xia, K., Xie, L., 2009. Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China. Mol. Vis. 15, 949-954.
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Article Metrics

    Article views (75) PDF downloads (4) Cited by ()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return