Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations
Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations
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中国GPR143基因突变家系虹膜厚度变化评估
DOI：
10.1016/j.exer.2019.107819
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发表时间：
2019-12-01
影响因子：
3.4
通讯作者：
Li, Ningdong
中科院分区：
文献类型：
--
作者：
Jiang, Jingjing;Yang, Likun;Li, Ningdong
目的：G蛋白偶联受体143（GPR 143）基因的致病性变异可能导致眼白化病I型（OA 1）。本研究通过对6个OAI家系的临床特征、GPR 143基因突变及虹膜厚度变化的研究，探讨了OAI家系的临床特征及GPR 143基因突变对虹膜厚度变化的影响。方法：对6个OAI家系的患者进行最佳矫正视力（BCVA）、眼前节、玻璃体及眼底检查。使用光谱域光学相干断层扫描（SD-OCT）测量瞳孔和睫状体区域的全虹膜厚度、基质/前边缘（SAB）层和后上皮层（PEL）。在确认知情同意信息后，从外周血管中提取DNA。结果：患者视力下降，眼球震颤，黄斑发育不全。在这些家族中检测到GPR 143基因的4个新的移码突变和2个先前报道的错义/无义突变。虹膜的厚度显着减少在睫状体区域的受影响的男性，相比，在正常对照组和女性carriers.Conclusions：致病性GPR 143基因的变异可能会干扰正常的黑素合成的色素组织的眼睛，导致黄斑发育不全，改变虹膜的厚度。
Purpose: Pathogenic variants of the G-protein coupled receptor 143 (GPR143) gene may result in Ocular albinism type I (OA1). In this study, we describe the clinical features and investigate the GPR143 gene mutations in six Chinese families with OAl and evaluate the thickness changes of iris for the affected males and female carriers.Methods: Families were ascertained, and patients underwent complete ophthalmologic examinations, including the best corrected visual acuity (BCVA), anterior segment of the eyes, vitreous and fundus changes. Spectral domain optical coherence tomography (SD-OCT) was used to measure the full iris thickness, the stroma/anterior border (SAB) layer, and the posterior epithelial layer (PEL) at the pupillary and ciliary regions. DNA was extracted from the peripheral blood vessels after confirmed consent information. GPR143 gene was directly sequenced by the Sanger method.Results: The affected males had variable reduced visual acuity, nystagmus and macular hypoplasia. Four novel frameshift mutations and two previously reported missense/nonsense mutations in the GPR143 gene were detected in these families. The thickness of the iris was significantly reduced at the ciliary region in the affected males, compared with that in the normal controls and the female carriers.Conclusions: Pathogenic variants in the GPR143 gene may disturb the normal melanogenesis in the pigmented tissues of the eye, result in macular hypoplasia, and alter the thickness of the iris.