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Y. Chen, X. Sun, D. Jiang, L. Yu; Mutations of CYP1B1 and MYOC in Patients With Primary Congenital Glaucoma in China. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5586.
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To determine the role of CYP1B1 and MYOC in causing primary congenital glaucoma (PCG) in Chinese population and to report the spectrum of the CYP1B1 and MYOC mutations in Chinese PCG patients.
The study included 116 unrelated cases of primary congenital glaucoma and 120 unrelated health controls in China. The coding sequence and the promoter region of CYP1B1 and MYOC were amplified by polymerase chain reaction (PCR) from genomic DNA, followed by direct DNA sequencing to identify disease-causing variants.
Twenty mutations were identified in the coding region of CYP1B1 in twenty patients, of which fourteen were novel. These included three frameshift mutations such as g.3972delC (premature stop at 59th codon), g.4169insGACCGGCCGGCCTTCGCC (122insDRPAFA), g.8209delAGCAGinsTTGTTGAAAAA (458delSR, insLLKK), and eleven missense mutations such as I60M, V95A, L107V, P118S, F134S, N203S, A287S, D291G, N319S, V363D, R368L. Overall, CYP1B1 was involved in 20(17.2%) cases out of 116 cases and homozygosity of mutant alleles was seen in 5 cases and compound heterozygosity 4 cases respectively. Compared with other ethic study, the frequency of CYP1B1 mutations, especially the homozygous mutations of CYP1B1, was relatively low, which showed other genes maybe involved in the pathogenic cause of the disease. In addition, six previously reported single nucleotide polymorphisms (SNP) (T2805C, T3793C, C3947G, G4160T, C8131G, C8184T) showed no obvious difference between PCG patients and controls. Three mutations (E230K, R272X, and S313F) of MYOC were observed in three cases without CYP1B1 mutations. Seven previously reported polymorphisms (G12R, Q19H, R46X, R76K, T123T, I288I and T353I) were also detected in PCG patients and controls. Thus, MYOC was involved in 2.6% (3 in 116) of PCG patients.
This study provides a mutation spectrum of CYP1B1 and MYOC causing primary congenital glaucoma in Chinese populations. CYP1B1 may be responsible for part of PCG affected patients, while MYOC contributes even less to the disease. Due to low frequency of mutations and without hotspot mutations, it can be predicted that diagnostic testing with the gene CYP1B1 is inefficient in Chinese PCG patients.
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