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Article

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jun 2003

Chao Sheau-Chiou, Tsai Ya-Ming, Lee Julia Yu-Yun

Abstract excerpt

Netherton syndrome (NS) is a severe, autosomal, recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma (CIE), trichorrhexis invaginata (TI) - a distinctive hair-shaft anomaly, and atopic diathesis. Recently, pathogenic mutations were identified in serine protease inhibitor Kazal-type 5 (SPINK5), the gene that encodes lympho-epithelial Kazal-type-related inhibitor (LEKTI), a recently...

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Identifiers

PMID: 12923596

Genes

SPINK5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.PMID 12923596Read ↗

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

Netherton syndrome and its multifaceted defective protein LEKTI.Semantic proximity Read ↗

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

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

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.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 ↗

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.Semantic proximity Read ↗

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