Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene
Diabetes may exacerbate the development of hyperlipidaemia in Alström syndrome. Obesity management strategies may be adjusted relaxed appropriately for patients with Alström syndrome patients. c.9151_9152delCT and c.10,822 C > T mutations of ALMS1 had the highest variant frequency in this cohort, and c.9539G > A was a new likely pathogenic as splicing variant.
Authors
- Yu Guo (ORCID: https://orcid.org/0000-0002-5028-2152)
- Bingjie Xue (ORCID: https://orcid.org/0000-0002-8872-928X)
- Huifang Peng (ORCID: https://orcid.org/0000-0003-2738-2080)
- Hongwei� Jiang (ORCID: https://orcid.org/0000-0003-3807-7989)
- Kailu Li (ORCID: https://orcid.org/0000-0002-5364-4155)
- Xin Cheng
- Liujun Fu (ORCID: https://orcid.org/0000-0001-8471-8164)
- Yuting Wu
Institutions
- Henan University of Science and Technology (CN)
- First Affiliated Hospital of Henan University of Science and Technology (CN)
Publication Details
- Journal
- Diabetology & Metabolic Syndrome
- Published
- 2025-10-03
- DOI
- https://doi.org/10.1186/s13098-025-01955-7
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00