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Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.

Genes - 14 May 2023

Moltrasio Chiara, Romagnuolo Maurizio, Riva Davide, Colavito Davide, Ferrucci Silvia Mariel, Marzano Angelo Valerio, Tadini Gianluca, Brena Michela

Abstract excerpt

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The SPINK5 (NM_006846.4): c.1258A>G polymorphism (rs2303067) shows a significant association with atopy and atopic dermatitis (AD), which share...

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Identifiers

PMID: 37239440
DOI: 10.3390/genes14051080
PMCID: PMC10218509

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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