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Article

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

Journal of human genetics - 1 May 2012

Fortugno Paola, Grosso Fabiana, Zambruno Giovanna, Pastore Serena, Faletra Flavio, Castiglia Daniele

Abstract excerpt

Netherton syndrome (NS) is a rare, life-threatening ichthyosiform syndrome caused by recessive loss-of-function mutations in SPINK5 gene encoding lymphoepithelial Kazal-type-related inhibitor (LEKTI), a serine protease inhibitor expressed in the most differentiated epidermal layers and crucial for skin barrier function. We report the functional characterization of a previously unrecognized synonymous variant,...

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Share to Computational Biology
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratinocytes

Share to Proteinase Inhibitory Proteins, Secretory

Share to Reverse Transcriptase Polymerase Chain Reaction

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Share to Serine Peptidase Inhibitor Kazal-Type 5

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Source

Identifiers

PMID: 22377713
DOI: 10.1038/jhg.2012.22

Genes

SPINK5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.PMID 22377713Read ↗

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Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.Semantic proximity Read ↗

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 ↗

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.Semantic proximity Read ↗

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SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.Semantic proximity Read ↗

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