■角质形成性鱼鳞病(KPI)代表一组主要由KRT1,KRT2或KRT10基因突变引起的常染色体显性遗传病。在KPI中,基因型和表型之间的关系是复杂的。
■分析中国KPI患者的临床表现和基因突变。
■收集了13名被诊断为KPI的儿童的临床数据,从患者及其父母中提取外周血DNA样本,使用先天性鱼鳞病多基因小组进行下一代测序,并使用Sanger测序方法进一步验证患者及其父母的所选变体。
■遗传分析在10例表皮性鱼鳞病患者中确定了KRT1或KRT10的错义突变,这些患者表现出不同程度的表皮性鱼鳞病的特征。在一名浅表表皮性鱼鳞病患者中发现了KRT2中的错义热点突变。此外,在KRT10中检测到两个截断突变,导致广泛性鱼鳞状红皮病的发展。出生时的耳朵畸形和外翻,头皮受累,观察到掌足底角化过度是五彩纸屑鱼鳞病的早期迹象。
■我们分析了KPI中的基因型-表型相关性,揭示了不同突变的类型和位置与不同的表型特征有关。在适当的剂量和时机,口服阿维A可被认为是严重患者的治疗选择。
UNASSIGNED: 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.
UNASSIGNED: To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.