Evidence map›Paper›PMID 41044667›Full record

ArticleDiabetology & metabolic syndrome2025

Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.

Huifang Peng, Kailu Li, Bingjie Xue, Yuting Wu, Yu Guo, Xin Cheng, Liujun Fu, Hongwei Jiang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Diabetology & metabolic syndrome, 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.

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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

8 authors.

Huifang Peng *Henan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Kailu Li *Henan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Bingjie XueHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Yuting WuHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Yu GuoHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Xin ChengHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Liujun FuHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China. flj923@sina.com.
Hongwei JiangHenan Key Laboratory of Rare Diseases, Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China. jianghw@haust.edu.cn.

Funding

the Henan Medical Education Research Project Wjlx2022116The Joint Co-construction Project of Henan Medical Science and Technology Research Plan LHGJ20230465The Key Project of Science and Technology Research and Development Joint Fund of Henan Province in China 225200810054
6 · The paper itself

Abstract

backgroundAlström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics.

methodClinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole exome sequencing was used for molecular diagnosis, and miniGene experiments were performed for the ALMS1 c.9539G > A mutation.

resultTwenty-five patients, 14 males and 11 females, with an average age of diagnosis of 7.3 years, were included. Obesity, insulin resistance, diabetes, thyroid nodules and subclinical hypothyroidism, hyperlipidemia, fatty liver, mild scoliosis and sex hormone abnormalities were common endocrine and metabolic abnormalities, whereas hypokalaemia and pancreatitis occurred only in a single case in this cohort. Among patients with Alström syndrome, the 2-h blood glucose and type III procollagen N-terminal peptide (PIIIPN-P) levels in non-obesity group were significantly greater than that in obesity group. And the TG level of Alström syndrome patients in diabetes group was higher than that in non-diabetes group. Nonsense and frameshift mutations were the main types of ALMS1 gene mutations (90%, 45/50), with c.9151_9152delCT and c.10,822 C > T being the two variants with the highest mutation frequency, accounting for 10% and 8%. c.9539G > A is a variant that affects splicing, resulting in 298 bp deletion of exon 10.

conclusionDiabetes 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.

Indexed as

ALMS1 mutationAlström syndromeDiabetesHyperlipidaemiaInsulin resistanceObesity

Identifiers

PMID41044667
PMCPMC12495653

What Socratic holds

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Registered trials

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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 Socratic graph.