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Mingzhi Zhang, Jian-Huan Chen, Ping Wu, Chukai Huang, YUQIANG HUANG, Haoyu Chen, Chi Pui Pang; Mutation screen of MYOC, OPTN, WDR36 and NTF4 in juvenile-onset open-angle glaucoma. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2546.
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To investigate possible mutations of MYOC, OPTN, WDR36 and NTF4 in southern Chinese patients with juvenile-onset open-angle glaucoma (JOAG).
The coding exons and splicing junction regions of MYOC, OPTN, WDR36 and NTF4 were screened in 46 unrelated JOAG patients by direct sequencing. Detected variants were subsequently examined in 200 unrelated controls. For single nucleotide polymorphisms, allele and genotype frequencies were compared using χ2 tests or Fisher’s exact tests. The missense variants were analyzed by Polyphen-2 software to determine whether they have any effect on the function of proteins.
In MYOC, two previously reported disease-causing mutations (G367R and P370L) were found only in JOAG patients but not in controls, which in total contributed 8.7% of all JOAG patients. In OPTN, two novel mutations (R329G and L494W) that were predicted to be damaging to protein fucntion by Polyphen-2, were only found in JOAG patients, contributing 4.3% of all JOAG patients. In WDR36, we found two missense variants (I264V、I713V) in both JOAG and controls, but no significant statistically differences were found between JOAG and controls. In NTF4, no coding or splicing variant was detected in JOAG.
Our results suggest MYOC and OPTN were associated with JOAG, and mutations in these two genes contributed 13% of our JOAG patients. No mutations in WDR36 or NTF4 were detected in the current study. The involvement of WDR36 and NTF4 in JOAG needs to investigate in further study.
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