Evidence map›Paper›PMID 40919431›Full record

ArticleFrontiers in genetics2025

Novel pathogenic splicing mutation in

Jie Zhang, Yaxin Huang, Yafei Deng, Xiaochun Yang, Hong Shi, Yuecheng Yang, Tao Lv, Yuanlong Yan, Ming He, Fang Liu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. Review
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

10 authors.

Jie Zhang *Medical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
Yaxin Huang *Medical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
Yafei DengMedical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
Xiaochun YangDepartment of Ophthalmology, The First People's Hospital of Yunnan Province, Kunming, China.
Hong ShiState Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Yuecheng YangThe Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Tao LvMedical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
Yuanlong YanMedical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
Ming HeDepartment of Biochemistry and Molecular Biology, Faculty of Basic Medical Science, Kunming Medical University, Kunming, Yunnan, China.
Fang LiuMedical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Stickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on the basis of clinical features because of phenotypic variability. Thus, expanding the variant spectrum of this disease will aid in achieving a firm definitive diagnosis of STL. Methods: Comprehensive examinations, including ophthalmology, otology, and orthopedic evaluations, were performed to identify the disease phenotype of the proband. Furthermore, whole-exome sequencing (WES) and Sanger sequencing were performed to identify the molecular basis of the disease. Results: The proband presented mild symptoms with early-onset high myopia and mild scoliosis. A novel Conclusion: We identified a novel acceptor splice site variant causing aberrant splicing of

Indexed as

COL11A1 genede novo novel splicing variantminigene splicing assayStickler syndromewhole-exome sequencing

Identifiers

PMID40919431
PMCPMC12411211

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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 OpenQuestion graph.