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Article

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Molecular genetics & genomic medicine - 1 Mar 2021

Mintoff Dillon, Borg Isabella, Vornweg Julia, Mercieca Liam, Merdzanic Rijad, Numrich Johannes, Aquilina Susan, Pace Nikolai Paul, Fischer Judith

Abstract excerpt

BACKGROUND: Netherton syndrome (NS) is a genodermatosis caused by loss-of-function mutations in SPINK5, resulting in aberrant LEKTI expression. METHOD: Next-generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional studies were performed by immunofluorescence microscopy of a lesional skin biopsy using anti-LEKTI antibodies. RESULTS: We describe a novel SPINK5 likely pathogenic donor splice...

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Identifiers

PMID: 33534181
DOI: 10.1002/mgg3.1611
PMCID: PMC8104165

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