Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma.</p><p><b>METHODS</b>The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The de novo mutation of the KRT10 gene probably underlies the disease in the child.</p>