Evidence map›Paper›PMID 41783587›Full record

ArticleFrontiers in genetics2026

Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.

Zibin Lin, Jiale Xiang, Xiangzhong Sun, Xinyu Shi, Xiaozhou Liu, Qinming Cai, Jing Yang, Nana Song, Haodong Ye, Jiangfan Xu and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2026. 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

14 authors.

Zibin Lin *Reproductive Medicine Center, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Jiale Xiang *College of Life Sciences, University of Chinese Academy of Sciences, Huairou, Beijing, China.
Xiangzhong SunBGI Genomics, Shenzhen, Guangdong, China.
Xinyu ShiDepartment of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Xiaozhou LiuDepartment of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Qinming CaiDepartment of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Jing YangBGI Genomics, Shenzhen, Guangdong, China.
Nana SongBGI Genomics, Shenzhen, Guangdong, China.
Haodong YeBGI Genomics, Shenzhen, Guangdong, China.
Jiangfan XuBGI Genomics, Shenzhen, Guangdong, China.
Jiguang PengBGI Genomics, Shenzhen, Guangdong, China.
Xianghong OuReproductive Medicine Center, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Yu SunDepartment of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Zhiyu PengCollege of Life Sciences, University of Chinese Academy of Sciences, Huairou, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Perrault syndrome (PS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and primary ovarian insufficiency in females. Methods: Two unrelated Chinese probands with hearing loss were enrolled, and comprehensive clinical evaluations were performed. Whole-exome sequencing (WES) was used to identify genetic variants, followed by Sanger sequencing for family co-segregation verification. Minigene assays and RT-PCR were conducted to assess the splicing effect of the novel canonical splice-site variant Results: Proband 1 (12-year-old female) harbors compound heterozygous variants Conclusion: We identified two novel

Indexed as

LARS2 geneminigene assaynovel variantsPerrault syndromeRT-PCR

Identifiers

PMID41783587
PMCPMC12956261

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.