Zhang Nianyi, Wang Xiaofang, Tang Zengqi, Qiu Xiaonan, Guo Zhixuan, Huang Danqi, Xiong Hui, Guo Qing
Department of Dermatology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
Department of Dermatology and Venerology, University of Chinese Academy of Sciences Shenzhen Hospital, Shenzhen, China.
Front Genet. 2021 Feb 19;11:575750. doi: 10.3389/fgene.2020.575750. eCollection 2020.
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that occurs between 1 in 6,000 and 1 in 10,000 live births. Additionally, renal angiomyolipoma is the most common form of renal disease in patients affected by TSC. Although a genetic mutation analysis of TSC is not rare, the correlation between the TSC gene mutation and renal angiomyolipoma phenotype is poorly understood. This study aims to analyze the mutation sites in 261 types of selected TSC patients. The results reveal that: (1) female patients develop more renal angiomyolipoma than male patients [ = 0.008, OR = 2.474, 95%CI (1.258-4.864)]; (2). The missense mutation of led to a higher risk of renal angiomyolipoma [ < 0.01, OR = 15, 95%CI (2.859-78.691)], and in contrast, showed a reduced risk in patients with frameshift mutation [ = 0.03, OR = 0.252, 95%CI (0.07-0.912)]; (3). Patients with mutations in the transcription activation domain 1 coding genes, had increased renal angiomyolipoma [ = 0.019, OR = 3.519, 95%CI (1.226-10.101)]. Therefore, our genotype-phenotype correlation study might shed light on the early monitoring and evaluation of renal angiomyolipoma in TSC patients.
结节性硬化症（TSC）是一种罕见的多系统常染色体显性遗传病，发病率约为1/6000至1/10000活产儿。此外，肾血管平滑肌脂肪瘤是TSC患者中最常见的肾病形式。虽然TSC的基因突变分析并不罕见，但TSC基因突变与肾血管平滑肌脂肪瘤表型之间的相关性尚不清楚。本研究旨在分析261例选定TSC患者的突变位点。结果显示：（1）女性患者发生肾血管平滑肌脂肪瘤的比例高于男性患者[ = 0.008，OR = 2.474，95%CI（1.258 - 4.864）]；（2） 的错义突变导致肾血管平滑肌脂肪瘤风险更高[ < 0.01，OR = 15，95%CI（2.859 - 78.691）]，相反，移码突变患者的风险降低[ = 0.03，OR = 0.252，95%CI（0.07 - 0.912）]；（3）转录激活域1编码基因发生 突变的患者，肾血管平滑肌脂肪瘤增加[ = 0.019，OR = 3.519，95%CI（1.226 - 10.101）]。因此，我们的基因型 - 表型相关性研究可能有助于对TSC患者肾血管平滑肌脂肪瘤的早期监测和评估。
