{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:13:07Z","timestamp":1785496387951,"version":"3.56.0"},"reference-count":37,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["[RF-2010-23183729]"],"award-info":[{"award-number":["[RF-2010-23183729]"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["CIRO"],"award-info":[{"award-number":["CIRO"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["Legge 38\/2020 art.16"],"award-info":[{"award-number":["Legge 38\/2020 art.16"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["[RF-2010-23183729]"],"award-info":[{"award-number":["[RF-2010-23183729]"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["CIRO"],"award-info":[{"award-number":["CIRO"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["Legge 38\/2020 art.16"],"award-info":[{"award-number":["Legge 38\/2020 art.16"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Regione Campania BURC","award":["[RF-2010-23183729]"],"award-info":[{"award-number":["[RF-2010-23183729]"]}]},{"name":"Regione Campania BURC","award":["CIRO"],"award-info":[{"award-number":["CIRO"]}]},{"name":"Regione Campania BURC","award":["Legge 38\/2020 art.16"],"award-info":[{"award-number":["Legge 38\/2020 art.16"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Psoriasis is a chronic multifactorial skin disorder with an immune basis. It is characterized by patches of skin that are usually red, flaky and crusty, and that often release silvery scales. The patches appear predominantly on the elbows, knees, scalp and lower back, although they may also appear on other body areas and severity may be variable. The majority of patients (about 90%) present small patches known as \u201cplaque psoriasis\u201d. The roles of environmental triggers such as stress, mechanical trauma and streptococcal infections are well described in psoriasis onset, but much effort is still needed to unravel the genetic component. The principal aim of this study was to use a next-generation sequencing technologies-based approach together with a 96 customized multigene panel in the attempt to determine if there are germline alterations that can explain the onset of the disease, and thus to find associations between genotypes and phenotypes. To this aim, we analyzed a family in which the mother showed mild psoriasis, and her 31-year-old daughter had suffered from psoriasis for several years, whereas an unaffected sister served as a negative control. We found variants already associated directly to psoriasis in the TRAF3IP2 gene, and interestingly we found a missense variant in the NAT9 gene. The use of multigene panels in such a complex pathology such as psoriasis can be of great help in identifying new susceptibility genes, and in being able to make early diagnoses especially in families with affected subjects.<\/jats:p>","DOI":"10.3390\/ijms24054743","type":"journal-article","created":{"date-parts":[[2023,3,2]],"date-time":"2023-03-02T03:29:00Z","timestamp":1677727740000},"page":"4743","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1999-4992","authenticated-orcid":false,"given":"Marcella","family":"Nunziato","sequence":"first","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5485-0172","authenticated-orcid":false,"given":"Anna","family":"Balato","sequence":"additional","affiliation":[{"name":"Dermatology Unit, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ruocco","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9273-3698","authenticated-orcid":false,"given":"Valeria","family":"D\u2019Argenio","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy"},{"name":"Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, 00166 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Di Caprio","sequence":"additional","affiliation":[{"name":"Microbiology and Virology Unit, Cotugno Hospital, AORN Dei Colli, Via Gaetano Quagliariello, 54, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Balato","sequence":"additional","affiliation":[{"name":"Italian \u201cSchool of Psoriasis\u201d Association, 81031 Aversa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2596-1268","authenticated-orcid":false,"given":"Fabio","family":"Ayala","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2346-3564","authenticated-orcid":false,"given":"Francesco","family":"Salvatore","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1016\/S0140-6736(20)32549-6","article-title":"Psoriasis","volume":"397","author":"Griffiths","year":"2021","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/S0140-6736(21)00184-7","article-title":"Therapeutics targeting the IL-23 and IL-17 pathway in psoriasis","volume":"397","author":"Ghoreschi","year":"2021","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1111\/jdv.18044","article-title":"Psoriasis and metabolic syndrome: Implications for the management and treatment of psoriasis","volume":"36","author":"Wu","year":"2022","journal-title":"J. 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