Evidence map›Paper›PMID 41466426›Full record

ArticleOrphanet journal of rare diseases2025

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Yiguo Huang, Libo Wang, Qianwen Zhang, Shiyang Gao, Guoying Chang, Tingting Yu, Ru-En Yao, Yu Ding, Xiumin Wang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Yiguo Huang *Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Libo Wang *Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Qianwen Zhang *Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Shiyang GaoDepartment of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Guoying ChangDepartment of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Tingting YuDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200127, China.
Ru-En YaoDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200127, China.
Yu DingDepartment of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. dingyu@scmc.com.cn.
Xiumin WangDepartment of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. wangxiumin1019@126.com.ORCID 0000-0002-2186-759X

Funding

2024-National Clinical Key Specialty Construction Project No.10000015Z155080000004Healthcare Project under the Civil Livelihood Research Special Program, Pudong New Area Science and Technology Development Fund Public InstitutionNational Key R&D Program of China 2023YFC2706305National Nature Science Foundation of China 82170190Science and Technology Commission of Shanghai Municipality 23J41900200Science, Technology and Economy Commission of Shanghai Pudong New Area PKJ2023-Y48Shanghai Clinical Medical Research Center for children's rare diseases 20MC1920400
6 · The paper itself

Abstract

backgroundAlström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan dysfunction. Despite its clinical significance, comprehensive and population-based studies of ALMS remain limited worldwide, particularly in Asian populations.

methodsThis cross-sectional and follow-up study enrolled 127 genetically confirmed Chinese ALMS patients (aged 1.0-35.1 years). Whole-exome sequencing (WES) identified ALMS1 variants, and echocardiography evaluated cardiac phenotypes. Retrospective analysis tracked LVEF changes in 11 infantile cardiomyopathy cases.

resultsA total of 132 distinct ALMS1 variants (254 alleles) were identified, including 64 novel variants. Truncating mutations predominated (nonsense: 46.9%, frameshift: 45.3%), with recurrent variants c.10,825 C > T (7.9%), c.2090 C > A (5.5%), and c.10831_10832delAG (4.7%). Clinical manifestations included universal visual impairment (100%, 112/112), obesity (84.1%, 96/114), hearing loss (70.8%, 51/72), hepatic steatosis (66.7%, 40/60), and cardiac abnormalities (58.2%, 46/79). Echocardiographic analysis of 34 patients revealed exon 16 truncating variants were significantly associated with infantile-onset cardiomyopathy (72.7% vs. 30.4%, p < 0.05). In 11 infantile cardiomyopathy cases, LVEF improved post-treatment, yet progressive cardiac enlargement persisted.

conclusionThis study provides the most comprehensive clinical and genetic characterization of Alström syndrome in a Chinese cohort to date, identifying 64 novel ALMS1 variants and expanding the known mutational spectrum of this rare disorder. The findings reveal the multisystem nature of ALMS, with frequent metabolic, hepatic, and cardiac involvement, and emphasize the importance of early recognition, multidisciplinary monitoring, and lifelong management. Together, these results establish an evidence-based foundation for improving genetic counseling, guiding precision diagnosis, and informing future mechanistic and therapeutic research on ALMS.

Indexed as

Alstrom SyndromeAdolescentAdultCell Cycle ProteinsChildChild, PreschoolChinaCross-Sectional StudiesFemaleFollow-Up StudiesHumansInfantMaleMutationYoung AdultALMS1 protein, humanCell Cycle ProteinsALMS1Alström syndromeCardiomyopathyEchocardiography

Identifiers

PMID41466426
PMCPMC12751321

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.