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

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.