Lyu Yuqiang, Shi Chuankui, Zhang Kaihui, Gao Min, Liu Yi
Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):434-436. doi: 10.3760/cma.j.issn.1003-9406.2018.03.029.
To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma.
The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause.
The patient manifested generalized erythema, blistering, and extensive exfoliation of the skin. A heterozygous missence 482T>G mutation was found in the first exon of KRT10 gene, which led to a p.L161W alteration in its protein product.
The de novo mutation of the KRT10 gene probably underlies the disease in the child.
探讨1例大疱性先天性鱼鳞病样红皮病新生儿的遗传病因及临床特征。
对该患者进行全面检查。提取基因组DNA后，进行二代测序以分析遗传病因。
患者表现为全身性红斑、水疱及广泛皮肤剥脱。在KRT10基因第一外显子中发现一个杂合错义482T>G突变，导致其蛋白质产物发生p.L161W改变。
KRT10基因的新发突变可能是该患儿疾病的病因。
