Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.

ABSTRACT:

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 miss

SUBMITTER: Yang Z 

PROVIDER: S-EPMC10509410 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature