A novel SPINK5 donor splice site variant in a child with Netherton syndrome (original) (raw)

Molecular Genetics & Genomic Medicine

BackgroundNetherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression.MethodNext‐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.ResultsWe describe a novel SPINK5 likely pathogenic donor splice site variant (NM_001127698.1:c.2015+5G>A) in a patient with NS and confirm its functional significance by demonstrating complete loss of LEKTI expression in lesional skin by immunofluorescence analysis.ConclusionThe 2015+5G>A is a novel, likely pathogenic variant in NS. Herein we review and assimilate documented SPINK5 pathogenic variants and discuss possible genotype–phenotype associations in NS.

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A novel SPINK5 donor splice site variant in a child with Netherton syndrome (original) (raw)

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