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Updated: Feb 9, 2026

Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
[Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing]
Yuqiang Lyu1, Chuankui Shi, Kaihui Zhang
1Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
Objective:
To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma.
Methods:
The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause.
Results:
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.
Conclusion:
The de novo mutation of the KRT10 gene probably underlies the disease in the child.
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