Evidence map›Paper›PMID 40677926›Full record

ArticleHuman mutation2025

Identification of Novel

Haolin Wang, Bo Wei, Jiaxin Guo, Xiawei Wu, Tongdan Zou, Ting Wang, Tiantian Zhang, Bo Gong, Jilong Hao, Houbin Zhang and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Haolin WangThe Key Laboratory for Human Disease Gene Study of Sichuan Province and Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Bo WeiDepartment of Neurosurgery, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
Jiaxin GuoThe Key Laboratory for Human Disease Gene Study of Sichuan Province and Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Xiawei WuThe Key Laboratory for Human Disease Gene Study of Sichuan Province and Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Tongdan ZouThe Key Laboratory for Human Disease Gene Study of Sichuan Province and Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Ting WangThe Key Laboratory for Human Disease Gene Study of Sichuan Province and Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Tiantian ZhangDepartment of Ophthalmology, The First Hospital of Jilin University, Changchun, China.
Bo GongThe Key Laboratory for Human Disease Gene Study of Sichuan Province and Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Jilong HaoDepartment of Ophthalmology, The First Hospital of Jilin University, Changchun, China.
Houbin ZhangThe Key Laboratory for Human Disease Gene Study of Sichuan Province and Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.ORCID 0000-0002-2968-7454
Le WangDepartment of Ophthalmology, The First Hospital of Jilin University, Changchun, China.ORCID 0009-0007-5682-3726

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Usher syndrome (USH) is a rare genetic disease characterized by sensorineural deafness and blindness called retinitis pigmentosa, and it is inherited in an autosomal recessive pattern with a prevalence of four to 17 per 100,000 people worldwide. In this study, a consanguineous Chinese family with USH, including two affected individuals and five unaffected individuals, was recruited. All subjects received an ophthalmic examination and an auditory examination. The two USH patients exhibited severe early-onset hearing and vision loss. DNA samples from the two USH patients were analyzed using whole-exome sequencing. A novel homozygous frameshift mutation (NM_206933.4:c.6379_6380delinsC, p.G2127Pfs∗25) in

Indexed as

ConsanguinityExtracellular Matrix ProteinsMutationUsher SyndromesEast Asian PeopleExome SequencingFemaleHumansMalePedigreePhenotypeExtracellular Matrix ProteinsUSH2A protein, human

Identifiers

PMID40677926
PMCPMC12267961

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Registered trials

None linked

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.