Wu Yuhao, Wen Long, Wang Peiru, Wang Xiuli, Zhang Guolong
Institute of Photomedicine, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.
Front Genet. 2022 Aug 25;13:926451. doi: 10.3389/fgene.2022.926451. eCollection 2022.
Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and epidermal atrophy. gene with multiple mutations has been identified as a potential causative gene for congenital poikiloderma. In this report, we described a boy with congenital poikiloderma confirmed by clinical manifestations. Next-generation sequencing based on a gene probe panel consisting of 541 genetic loci of genodermatoses, was used to screen mutations of the proband and his parents. Results showed that a missense mutation in the gene c.1883G>A (rs587777238) was identified in the proband, but absent in his parents, indicating the mutation is . In conclusion, a new case of congenital poikiloderma in China was reported, and the hotspot mutations in codon 628 of gene was reviewed, as well as authenticating the uncertain association between genotypes and phenotypes in this rare disease.
先天性皮肤异色症是一种极其罕见的常染色体显性遗传综合征，其特征为早发性皮肤异色症、毛细血管扩张和表皮萎缩。一个具有多种突变的基因已被确定为先天性皮肤异色症的潜在致病基因。在本报告中，我们描述了一名经临床表现确诊为先天性皮肤异色症的男孩。基于由541个遗传性皮肤病基因位点组成的基因探针组进行的二代测序，用于筛查先证者及其父母的突变。结果显示，先证者中鉴定出基因c.1883G>A（rs587777238）的错义突变，但其父母中未出现，表明该突变是……总之，报告了中国一例新的先天性皮肤异色症病例，回顾了该基因第628密码子的热点突变，并验证了这种罕见疾病中基因型与表型之间不确定的关联。
