SynthesisJournal of medical genetics2023
Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.
Synthesis in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
- Alström syndrome in a Chinese girl: a case report and literature review.Translational pediatrics · 2026Article
- Prevalence and Clinical Relevance of Alström Syndrome Protein 1 Gene Variant and Feline Hypertrophic Cardiomyopathy in Sphynx Cats in Thailand.Animals : an open access journal from MDPI · 2026Article
- Characterisation of a Missense Variant of theGenes · 2026Article
- Case Report: Identification of two novelFrontiers in genetics · 2026Article
- Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.Orphanet journal of rare diseases · 2025Article
- Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models.BMC pediatrics · 2025Article
- Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family.Molecular biology reports · 2025Article
- Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.Molecular genetics & genomic medicine · 2025Article
- Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.BMC medical genomics · 2025Review
- A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification.International journal of molecular sciences · 2025Article
- Diseases of the primary cilia: a clinical characteristics review.Pediatric nephrology (Berlin, Germany) · 2025Review
- Monogenic diabetes.Diabetology international · 2024Review
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024Review
- Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report.BMC pediatrics · 2024Article
- Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.Yonago acta medica · 2024Review
- Alström syndrome-wide clinical variability within the same variant: a case report and literature review.Frontiers in pediatrics · 2024Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlström syndrome (ALMS; #203800) is an ultrarare monogenic recessive disease. This syndrome is associated with variants in the
methodsIn this study we collected all cases of ALMS published to date. We created a database of patients who had a genetic diagnosis and an individualised clinical history. Lastly, we attempted to establish a genotype-phenotype correlation using the truncation site of the patient's longest allele as a grouping criteria.
resultsWe collected a total of 357 patients, of whom 227 had complete clinical information, complete genetic diagnosis and meta-information on sex and age. We have seen that there are five variants with high frequency, with p.(Arg2722Ter) being the most common variant, with 28 alleles. No gender differences in disease progression were detected. Finally, truncating variants in exon 10 seem to be correlated with a higher prevalence of liver disorders in patients with ALMS.
conclusionPathogenic variants in exon 10 of the
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