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https://www.um.edu.mt/library/oar/handle/123456789/93062
Title: | A novel SPINK5 donor splice site variant in a child with Netherton syndrome |
Authors: | Mintoff, Dillon Borg, Isabella Vornweg, Julia Mercieca, Liam Merdzanic, Rijad Numrich, Johannes Aquilina, Susan Pace, Nikolai Paul Fischer, Judith |
Keywords: | Pathogenic viruses Molecular genetics |
Issue Date: | 2021 |
Publisher: | John Wiley & Sons Ltd. |
Citation: | Mintoff, D., Borg, I., Vornweg, J., Mercieca, L., Merdzanic, R., Numrich, J., ... & Fischer, J. (2021). A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Molecular Genetics & Genomic Medicine, 9(3), e1611. |
Abstract: | 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 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. Conclusion: The 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. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/93062 |
Appears in Collections: | Scholarly Works - FacM&SAna |
Files in This Item:
File | Description | Size | Format | |
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A_novel_SPINK5_donor_splice_site_variant_in_a_child_with_Netherton_syndrome.pdf | 1.24 MB | Adobe PDF | View/Open |
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