Wan Ling, Xiang Li, Wang Haixin, Shi Yi, Jiang Dan, Hao Fang, Huang Lulin
Department of Ophthalmology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China , Chengdu , China.
Affiliated Sichuan Ba-Yi Rehabilitation Center of Chengdu University of TCM (Sichuan Provincial Rehabilitation Hospital) , Chengdu , China.
Ophthalmic Genet. 2019 Aug;40(4):380-384. doi: 10.1080/13816810.2019.1666878.
: To investigate the disease-causing gene in a Chinese family with Leber congenital amaurosis 4 (LCA4). : Four members of an LCA family underwent ophthalmological examination and systemic assessment. DNA samples were obtained from their peripheral blood. Whole exome sequencing (WES) was performed in the two patients. After data filtering, Sanger sequencing was performed to verify the mutation within this family. : The two patients were diagnosed as having LCA4 and with keratoconus (KCN). The older brother also has intellectual disability, epilepsy, Tourette syndrome and an abnormal gait, while the younger one has an abnormal bulge at the end of his sternum. A novel p.Gln81* mutation in the gene was determined as causing LCA4 in this family. Protein structure change prediction showed AIPL1 p.Gln81* mutation coded a very short AIPL1 peptide and could not form a normal structure as an normal AIPL1 protein. : Although KCN has been associated with LCA4, this type of LCA is typically moderate in severity and variable between patients. The present cases also have some systemic abnormalities.
研究一个患有莱伯先天性黑蒙4型（LCA4）的中国家系中的致病基因。对一个LCA家系的四名成员进行了眼科检查和全身评估。从他们的外周血中获取DNA样本。对两名患者进行了全外显子组测序（WES）。数据过滤后，进行桑格测序以验证该家系中的突变。两名患者被诊断为患有LCA4和圆锥角膜（KCN）。哥哥还患有智力残疾、癫痫、妥瑞氏综合征和步态异常，而弟弟胸骨末端有异常隆起。确定该基因中的一个新的p.Gln81突变导致了这个家系中的LCA4。蛋白质结构变化预测显示，AIPL1 p.Gln81突变编码了一个非常短的AIPL1肽，无法形成正常AIPL1蛋白的正常结构。尽管KCN与LCA4有关，但这种类型的LCA通常严重程度中等，且患者之间存在差异。本病例还存在一些全身异常。
