Xu Min, Xiong Hui, Han Yanfang, Li Chijun, Mai Shaozhen, Huang Zhongzhou, Ai Xuechen, Guo Zhixuan, Zeng Fanqin, Guo Qing
Department of Dermatology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
Department of Dermatology, The Eighth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Front Genet. 2018 Jul 24;9:270. doi: 10.3389/fgene.2018.00270. eCollection 2018.
Neurofibromatosis type I is a rare neurocutaneous syndrome resulting from loss-of-function mutations of . The present study sought to determine a correlation between mutation regions on and the risk of developing optic pathway glioma (OPG) in patients with neurofibromatosis type I. A total of 215 patients with neurofibromatosis type I, from our clinic or previously reported literature, were included in the study after applying strict inclusion and exclusion criteria. Of these, 100 patients with OPG were classified into the OPG group and 115 patients without OPG (aged ≥ 10 years) were assigned to the Non-OPG group. Correlation between different mutation regions and risk of OPG was analyzed. The mutation clustering in the 5' tertile of was not significantly different between OPG and Non-OPG groups ( = 0.131). Interestingly, patients with mutations in the cysteine/serine-rich domain of had a higher risk of developing OPG than patients with mutations in other regions [ = 0.019, adjusted odds ratio (OR) = 2.587, 95% confidence interval (CI) = 1.167-5.736], whereas those in the HEAT-like repeat region had a lower risk ( = 0.036, adjusted OR = 0.396, 95% CI = 0.166-0.942). This study confirms a new correlation between genotype and OPG phenotype in patients with neurofibromatosis type I, and provides novel insights into molecular functions of neurofibromin.
I型神经纤维瘤病是一种由功能丧失性突变引起的罕见神经皮肤综合征。本研究旨在确定I型神经纤维瘤病患者的[相关基因]突变区域与发生视神经通路胶质瘤（OPG）风险之间的相关性。在应用严格的纳入和排除标准后，本研究纳入了总共215例来自我们诊所或先前报道文献的I型神经纤维瘤病患者。其中，100例OPG患者被分类为OPG组，115例无OPG（年龄≥10岁）患者被分配到非OPG组。分析了不同突变区域与OPG风险之间的相关性。OPG组和非OPG组在[相关基因]5'三分位数中的突变聚集没有显著差异（P = 0.131）。有趣的是，[相关基因]富含半胱氨酸/丝氨酸结构域发生突变的患者比其他区域发生突变的患者发生OPG的风险更高[P = 0.019，调整后的优势比（OR）= 2.587，95%置信区间（CI）= 1.167 - 5.736]，而在类HEAT重复区域发生突变的患者风险较低（P = 0.036，调整后的OR = 0.396，95% CI = 0.166 - 0.942）。本研究证实了I型神经纤维瘤病患者的[相关基因]基因型与OPG表型之间的新相关性，并为神经纤维瘤蛋白的分子功能提供了新的见解。
