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Article

Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.

The British journal of dermatology - 1 Nov 2005

Shimomura Y, Sato N, Kariya N, Takatsuka S, Ito M

Abstract excerpt

BACKGROUND: Netherton syndrome (NS) is a severe autosomal recessive disorder characterized by ichthyosiform erythroderma, bamboo hair and atopy. The disease is caused by mutations in the SPINK5 gene, which encodes a putative serine protease inhibitor, LEKTI (lymphoepithelial Kazal-type-related in...

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Source

Identifiers

PMID: 16225619
DOI: 10.1111/j.1365-2133.2005.06900.x

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16225619-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.PMID 16225619Read ↗

Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.Semantic proximity Read ↗

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SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.Semantic proximity Read ↗

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Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read ↗

Netherton syndrome: mutation analysis of two Taiwanese families.Semantic proximity Read ↗

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.Semantic proximity Read ↗

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A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.Semantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.Semantic proximity Read ↗

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.Semantic proximity Read ↗

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