The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.

ABSTRACT:

Objective

Netherton syndrome (NS) is a rare hereditary dermatosis, and the correlation between genotype and phenotype in this disease warrants further investigation. This study aimed to explore the genotype-phenotype correlation in NS.

Methods

We collect cases from our clinic and relevant literature. After rigorous screening, we included 162 patients with NS-associated symptoms and SPINK5 mutations. We characterized the distribution and mutation types of allele variants. Logistic regression was employed to analyze the correlation between the location of these variants and phenotypes. Additionally, the association between the homozygous condition of variants and death during infancy was analyzed using the Chi-square test.

Results

Among 162 patients, we identified 324 a

SUBMITTER: Xu M 

PROVIDER: S-EPMC11808037 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature