Importance:Keratinopathic ichthyosis(KPI)represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1,KRT2,or KRT10 genes.In KPI,the relationship between genotype and phen...Importance:Keratinopathic ichthyosis(KPI)represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1,KRT2,or KRT10 genes.In KPI,the relationship between genotype and phenotype is complex.Objective:To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.Methods:Clinical data were collected from 13 children diagnosed with KPI,and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel,and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.Results:Genetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis.A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis.Additionally,two truncation mutations in KRT10 were detected,leading to the development of generalized ichthyosiform erythroderma.Ear malformation and ectropion at birth,scalp involvement,and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.Interpretation:We analyzed the genotype-phenotype correlations in KPI,revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics.Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.展开更多
目的确定1个Siemens大疱性鱼鳞病(ichthyosis bullosa of Siemens,IBS)家系的致病基因,探讨本病基因型、表型及两者间关系。方法收集1个IBS家系先证者及其父母的临床资料,采集他们和100例无亲缘关系的健康对照者的外周血标本,提取DNA。...目的确定1个Siemens大疱性鱼鳞病(ichthyosis bullosa of Siemens,IBS)家系的致病基因,探讨本病基因型、表型及两者间关系。方法收集1个IBS家系先证者及其父母的临床资料,采集他们和100例无亲缘关系的健康对照者的外周血标本,提取DNA。应用二代皮肤靶向测序包检测该家系的基因突变,Sanger测序验证。结果先证者及其母亲在KRT2基因存在杂合点突变c.1459G>A(p.E487K),而100例健康对照者及先证者父亲均未发现该突变。结论本研究在1个IBS家系中检测到1个致病突变位点KRT2基因c.1459G>A(p.E487K),同时丰富了IBS的基因型、表型及两者间的关系。展开更多
文摘Importance:Keratinopathic ichthyosis(KPI)represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1,KRT2,or KRT10 genes.In KPI,the relationship between genotype and phenotype is complex.Objective:To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.Methods:Clinical data were collected from 13 children diagnosed with KPI,and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel,and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.Results:Genetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis.A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis.Additionally,two truncation mutations in KRT10 were detected,leading to the development of generalized ichthyosiform erythroderma.Ear malformation and ectropion at birth,scalp involvement,and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.Interpretation:We analyzed the genotype-phenotype correlations in KPI,revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics.Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.
文摘目的确定1个Siemens大疱性鱼鳞病(ichthyosis bullosa of Siemens,IBS)家系的致病基因,探讨本病基因型、表型及两者间关系。方法收集1个IBS家系先证者及其父母的临床资料,采集他们和100例无亲缘关系的健康对照者的外周血标本,提取DNA。应用二代皮肤靶向测序包检测该家系的基因突变,Sanger测序验证。结果先证者及其母亲在KRT2基因存在杂合点突变c.1459G>A(p.E487K),而100例健康对照者及先证者父亲均未发现该突变。结论本研究在1个IBS家系中检测到1个致病突变位点KRT2基因c.1459G>A(p.E487K),同时丰富了IBS的基因型、表型及两者间的关系。
