{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:20:38Z","timestamp":1790742038149,"version":"4.1.0"},"reference-count":63,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Hidradenitis suppurativa (HS) is a complex, chronic inflammatory skin disorder whose pathophysiology is poorly understood. Genetic studies have shown that HS is predisposed by mutations in the \u03b3-secretase gene, but only a proportion of familial and partial sporadic cases have been shown to possess such mutations. HS has high genetic heterogeneity and is thought to be triggered by a combination of genetics and environmental factors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims:<\/jats:title>\n                    <jats:p>The study aimed to investigate the genetic causes of HS in a large cohort of patients and to update the mutation spectrum of \u03b3-secretase complex genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We conducted mutational screening of 95 sporadic HS cases and one large family with both HS and acne conglobata (AC) to identify mutations in the coding and splice junction region of \u03b3-secretase complex genes (nicastrin (\n                      <jats:italic toggle=\"yes\">NCSTN<\/jats:italic>\n                      ), presenilin 1 (\n                      <jats:italic toggle=\"yes\">PSEN1<\/jats:italic>\n                      ), presenilin enhancer 2 (\n                      <jats:italic toggle=\"yes\">PSENEN<\/jats:italic>\n                      ), and aph-1 homolog B, gamma-secretase subunit (\n                      <jats:italic toggle=\"yes\">APH1B)<\/jats:italic>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Our study identified a nucleotide substitution of 1876C&gt;T in the\n                      <jats:italic toggle=\"yes\">NCSTN<\/jats:italic>\n                      gene, which caused a stop codon (p.Arg626X) in the affected members of a large family with HS and AC. No pathogenic variants were detected in 95 sporadic cases of HS, indicating there is possible genetic heterogeneity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We report a new family with a nonsense mutation in the NCSTN gene that supports the role of the \u03b3-secretase complex genes in HS with AC. The updated \u03b3-secretase mutation spectrum for HS now includes 78 mutations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijd.ijd_995_21","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T01:47:09Z","timestamp":1715737629000},"page":"141-147","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":13,"title":["An Updated Mutation Spectrum of the \u03b3-Secretase Complex"],"prefix":"10.4103","volume":"68","author":[{"given":"Uppala","family":"Ratnamala","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayan K.","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devendrasinh D","family":"Jhala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pullabatla V.S.","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazia","family":"Saiyed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sreelatha","family":"Nair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uppala","family":"Radhakrishna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-3-20240829","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1001\/jamadermatol.2021.1677","article-title":"Prevalence of hidradenitis suppurativa: A systematic review and meta-regression analysis","volume":"157","author":"Jfri","year":"2021","journal-title":"JAMA Dermatol"},{"key":"R2-3-20240829","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/jdv.16677","article-title":"Hidradenitis suppurativa: An update on 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