{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T18:40:56Z","timestamp":1764700856111,"version":"3.41.2"},"reference-count":50,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T00:00:00Z","timestamp":1612310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Netherton syndrome (NS) is a genodermatosis caused by loss\u2010of\u2010function mutations in <jats:italic>SPINK5<\/jats:italic>, resulting in aberrant LEKTI expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Next\u2010generation sequencing of <jats:italic>SPINK5<\/jats:italic> (NM_001127698.1) was carried out and functional studies were performed by immunofluorescence microscopy of a lesional skin biopsy using anti\u2010LEKTI antibodies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We describe a novel <jats:italic>SPINK5<\/jats:italic> likely pathogenic donor splice site variant (NM_001127698.1:c.2015+5G&gt;A) in a patient with NS and confirm its functional significance by demonstrating complete loss of LEKTI expression in lesional skin by immunofluorescence analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The 2015+5G&gt;A is a novel, likely pathogenic variant in NS. Herein we review and assimilate documented <jats:italic>SPINK5<\/jats:italic> pathogenic variants and discuss possible genotype\u2013phenotype associations in NS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1611","type":"journal-article","created":{"date-parts":[[2021,2,6]],"date-time":"2021-02-06T14:04:29Z","timestamp":1612620269000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel <i>SPINK5<\/i> donor splice site variant in a child with Netherton syndrome"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3705-0119","authenticated-orcid":false,"given":"Dillon","family":"Mintoff","sequence":"first","affiliation":[{"name":"Department of Dermatology Mater Dei Hospital Msida 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