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Article

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

The Journal of investigative dermatology - 1 Feb 2002

Bitoun Emmanuelle, Chavanas Stéphane, Irvine Alan D, Lonie Lorne, Bodemer Christine, Paradisi Mauro, Hamel-Teillac Dominique, Ansai Shin-ichi, Mitsuhashi Yoshihiko, Taïeb Alain, de Prost Yves, Zambruno Giovanna, Harper John I, Hovnanian Alain

Abstract excerpt

Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Recently, we identified SPINK5, which encodes the serine protease inhibitor Kazal-type 5 protein (LEKTI), as the defective gene in Netherton syndrome. Here we describe the intron-exon organization of the gene and characterize...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11841556
DOI: 10.1046/j.1523-1747.2002.01603.x

Genes

SPINK5

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.PMID 11841556Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

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

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

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.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 ↗

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

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

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

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

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

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

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