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A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.

Experimental dermatology - 1 Jul 2016

Numata Sanae, Teye Kwesi, Krol Rafal P, Okamatsu Yuki, Hashikawa Keiko, Matsuda Mitsuhiro, Fortugno Paola, Di Zenzo Giovanni, Castiglia Daniele, Zambruno Giovanna, Hamada Takahiro, Hashimoto Takashi

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Share to DNA Mutational Analysis
Share to SPINK5 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Serine Peptidase Inhibitor Kazal-Type 5

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Source

Identifiers

PMID: 26997095
DOI: 10.1111/exd.13011

Genes

SPINK5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.PMID 26997095Read ↗

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.Semantic proximity Read ↗

A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.Semantic proximity Read ↗

A case of Netherton syndrome with mutation in SPINK5 and FLG.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.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 ↗

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.Semantic proximity Read ↗

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

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

Glucose-6-phosphate dehydrogenase qingzhen: identification of a novel splice mutation (IVS5-1 G>A).Semantic proximity Read ↗

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.Semantic proximity Read ↗

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

SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.Semantic proximity Read ↗

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