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We also searched Chinese- and English-language databases to identify additional SLS cases for comparative analysis. Structural effects of detected variants on fatty aldehyde dehydrogenase (FALDH) were explored using PDB-derived models and PyMOL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Three SLS patients were identified, including one carrying a novel variant not previously reported. Literature review yielded 19 additional Chinese cases. Globally, SLS has a broad distribution, with the highest case counts reported in the United States, Sweden, and China. Compared with cohorts from other countries, Chinese patients showed a higher proportion of females, and compound heterozygous variants were more frequent than homozygous variants. The c.1157A\u2009&gt;\u2009G substitution emerged as the most common variant in Chinese SLS. Three-dimensional modeling suggested that several variants likely perturb FALDH conformation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Chinese SLS patients exhibit distinctive clinical and genetic patterns relative to other populations, with c.1157A\u2009&gt;\u2009G being the most frequent variant. Structural modeling supports a potential conformational impact of these variants on FALDH.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04489-x","type":"journal-article","created":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T17:04:41Z","timestamp":1784221481000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic analysis of patients with Sj\u00f6gren-Larsson syndrome in China"],"prefix":"10.1186","volume":"21","author":[{"given":"Feng","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bowen","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangshuo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liu","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liwei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinghong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Zhai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinshan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Ni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuli","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,16]]},"reference":[{"key":"4489_CR1","first-page":"1","volume":"113","author":"T Sjogren","year":"1957","unstructured":"Sjogren T, Larsson T. 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