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Qingjiong Zhang, Xiaobo Huang, Miaoling Li, Xiangming Guo, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Xing Liu, Qingjiong Zhang; Exome sequencing of 257 patients with POAG or PACG: mutations in seven known glaucoma-associated genes. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3791.
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Variations in a number of genes were reported to associate with primary glaucoma. The purpose of this study is to evaluate mutations in the MYOC, WDR36, OPTN, OPA1, NTF4, CYP1B1 and LTBP2 genes in a cohort of Chinese patients with different forms of primary glaucoma.
Genomic DNA was prepared from 683 unrelated patients, including 50 cases with primary congenital glaucoma (PCG), 103 cases with juvenile open-angle glaucoma (JOAG), 187 cases with primary open-angle glaucoma (POAG), and 343 cases with primary angle-closure glaucoma (PACG). Mutations in the seven genes in 257 of the 683 patients, including 35 with JOAG, 90 with POAG, and 132 with PACG, were initially analyzed by exome sequencing and then confirmed by Sanger sequencing. In addition, Sanger sequencing were used to detect additional MYOC mutations in the remaining 426 of the 683 cases, including (50 with PCG, 68 With JOAG,97 with POAG, and 211 with PACG).
Exome sequencing identified 20 mutations (seven mutations in MYOC, nine mutations in WDR36, three mutations in OPA1, and one mutation in OPTN) in 19 of the 257 patients, including four patients with JOAG, nine patients with POAG, and eight patients with PACG. One patient had mutations both in MYOC and OPTN. No mutation was detected in NTF4, CYP1B1 and LTBP2 in the 257 cases. In addition, Sanger sequencing of MYOC detected additional mutations in six of the remaining 426 patients, including three patients with JOAG, two patients with POAG, one patient with PACG, and none in PCG. Totally, mutations were found in 27 of the 683 patients. None of these mutations were detected in 384 alleles of 192 normal controls.
Twenty-four mutations in MYOC, WDR36, OPA1 and OPTN were detected in 27 of the 683 patients with primary glaucoma, including 11 MYOC mutations in 13 patients, nine WDR36 mutations in 11 patients, three OPA1 mutations in three patients, and one OPTN mutation in a patient who also had MYOC mutation. Two MYOC mutations, five WDR36 mutations, and two OPA1 mutations are found in nine of the 343 patients with PACG (2.6%), which are unexpected and need to be analyzed further.
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