Sjogren-Larsson综合征致病基因位点分析

【摘要】 目的 检测分析2例Sjogren-Larsson综合征患者的致病基因突变。方法 收集首都儿科研究所皮肤科门诊诊治的2例Sjogren-Larsson综合征患儿临床资料，通过基因检测明确致病基因突变位点。结果 2例患者均有典型的鱼鳞病样皮肤表现，合并一定程度的智力障碍及生长发育运动能力落后情况，例1存在已报道ALDH3A2基因c.1157A＞G的纯合突变；例2的ALDH3A2基因c.1157A＞G及c.1309A＞T复合杂合突变为新的致病突变。结论 对可疑Sjogren-Larsson综合征患儿应尽早进行基因检测，有助于及早发现并明确诊断。

Analysis of pathogenic genes in two cases of Sjogren-Larsson syndrome

【Abstract】 Objective To detect pathogenic mutations in 2 patients with Sjogren-Larsson syndrome. Methods Clinical data were collected from 2 children with Sjogren-Larsson syndrome, who were diagnosed and treated in Department of Dermatology, Capital Institute of Pediatrics, and genetic testing was performed to clarify their pathogenic mutations. Results Both the 2 patients presented with typical ichthyosis-like skin manifestations, accompanied by a certain degree of intellectual disorder and growth, development and motor retardation. A previously reported homozygous mutation c.1157A>G was identified in the ALDH3A2 gene in case 1; compound heterozygous mutations c.1157A>G and c.1309A>T were identified in the ALDH3A2 gene in case 2, which were considered as novel pathogenic mutations. Conclusion Genetic testing should be performed as early as possible in patients with suspected Sjogren-Larsson syndrome, in order to facilitate early definite diagnosis.