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Objective <p>To characterize the clinical features and genetic spectrum of Chinese patients with Sjögren–Larsson syndrome (SLS).</p> Methods <p>We retrospectively reviewed genetically confirmed SLS cases managed in the Functional Neurosurgery Department of Beijing Children’s Hospital. 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.</p> Results <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 &gt; G substitution emerged as the most common variant in Chinese SLS. Three-dimensional modeling suggested that several variants likely perturb FALDH conformation.</p> Conclusion <p>Chinese SLS patients exhibit distinctive clinical and genetic patterns relative to other populations, with c.1157A &gt; G being the most frequent variant. Structural modeling supports a potential conformational impact of these variants on FALDH.</p>

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Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月16日

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  • Feng Chen,
  • Bowen Yu,
  • Yangshuo Wang,
  • Liu Yuan,
  • Liwei Zhang,
  • Tinghong Liu,
  • Feng Zhai,
  • Jinshan Xu,
  • Xin Ni,
  • Shuli Liang

摘要

Objective

To characterize the clinical features and genetic spectrum of Chinese patients with Sjögren–Larsson syndrome (SLS).

Methods

We retrospectively reviewed genetically confirmed SLS cases managed in the Functional Neurosurgery Department of Beijing Children’s Hospital. 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.

Results

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 > G substitution emerged as the most common variant in Chinese SLS. Three-dimensional modeling suggested that several variants likely perturb FALDH conformation.

Conclusion

Chinese SLS patients exhibit distinctive clinical and genetic patterns relative to other populations, with c.1157A > G being the most frequent variant. Structural modeling supports a potential conformational impact of these variants on FALDH.