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Article

Netherton Syndrome: A Genotype-Phenotype Review.

Molecular diagnosis & therapy - 1 Apr 2017

Sarri Constantina A, Roussaki-Schulze Angeliki, Vasilopoulos Yiannis, Zafiriou Efterpi, Patsatsi Aikaterini, Stamatis Costas, Gidarokosta Polyxeni, Sotiriadis Dimitrios, Sarafidou Theologia, Mamuris Zissis

Abstract excerpt

Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and...

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Source

Identifiers

PMID: 27905021
DOI: 10.1007/s40291-016-0243-y

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→

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Netherton Syndrome: A Genotype-Phenotype Review.PMID 27905021Read ↗

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

Netherton syndrome and its multifaceted defective protein LEKTI.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 ↗

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

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

Netherton Syndrome -- a therapeutic challenge in childhoodSemantic 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 ↗

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.Semantic proximity Read ↗

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

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