Evidence map›Paper›PMID 42464379›Full record

ArticleOrphanet journal of rare diseases2026

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

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

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Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Feng ChenDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China.
Bowen YuDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China.
Yangshuo WangDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China.
Liu YuanDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China.
Liwei ZhangDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China.
Tinghong LiuDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China.
Feng ZhaiDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China.
Jinshan XuDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China. goldmount@163.com.
Xin NiKey Laboratory of Major Diseases in Children, Ministry of Education, Beijing, China. nixin@bch.com.cn.
Shuli LiangDepartment of Functional Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Cener for Children's Health, Beijing, China. 301_1sjwk@sina.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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

methodsWe 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.

resultsThree 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.

conclusionChinese 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.

Indexed as

Sjogren-Larsson SyndromeAldehyde OxidoreductasesChildChild, PreschoolChinaFemaleHumansMaleRetrospective StudiesAldehyde Oxidoreductaseslong-chain-aldehyde dehydrogenaseALDH3A2 geneIchthyosisIntellectual disabilitySjögren-Larsson syndromeSpastic diplegia

Identifiers

PMID42464379

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