Evidence map›Paper›PMID 42643619›Full record

ArticleHuman mutation2026

A Novel Homozygous Mutation in

Ming Li, Wen Tao, Qingshan Ji, Di Yan, Chen Zhang, Qinyi Zhang, Ping Jiang, Jun Qiu, Jie Wen, Bo Xu and 2 more

Abstract readCase Reports
In one paragraph

Article in Human mutation, 2026. 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. A Novel Homozygous Mutation inHuman mutation · 2026
    Article
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

12 authors.

Ming LiReproductive Medicine Center, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui, China, ahtcm.edu.cn.ORCID https://orcid.org/0009-0004-4959-971X
Wen TaoSchool of Medicine, Anhui University of Science and Technology, Huainan, China, aust.edu.cn.
Qingshan JiDepartment of Ophthalmology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China, ustc.edu.cn.
Di YanSchool of Life Science, Anhui Agricultural University, Hefei, China, ahau.edu.cn.
Chen ZhangSchool of Life Science, Anhui Agricultural University, Hefei, China, ahau.edu.cn.ORCID https://orcid.org/0000-0003-0724-5169
Qinyi ZhangSchool of Medicine, Anhui University of Science and Technology, Huainan, China, aust.edu.cn.
Ping JiangReproductive Medicine Center, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui, China, ahtcm.edu.cn.
Jun QiuDepartment of Radiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China, ustc.edu.cn.ORCID https://orcid.org/0000-0002-3942-9651
Jie WenDepartment of Radiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China, ustc.edu.cn.ORCID https://orcid.org/0000-0002-8957-8444
Bo XuCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China, ustc.edu.cn.ORCID https://orcid.org/0000-0002-8606-6603
Shun BaiCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China, ustc.edu.cn.ORCID https://orcid.org/0000-0002-5211-3264
Xiaohua JiangCenter for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China, ustc.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) and multiple morphological abnormalities of the sperm flagella (MMAF) frequently co-occur in male infertility. However, the genetic basis of this syndromic presentation remains unclear. Using whole-exome sequencing, we identified a novel homozygous

Indexed as

Ciliary Motility DisordersFlagellaHomozygoteMutationSperm TailExome SequencingHumansInfertility, MaleMaleMicrotubule ProteinsPedigreePhenotypeRNA Splice SitesTranscription FactorsYoung AdultARL2BP protein, humanMicrotubule ProteinsRNA Splice SitesSPAG6 protein, humanTranscription FactorsARL2BPmale infertilitymultiple morphological abnormalities of the flagellaprimary ciliary dyskinesiaretinitis pigmentosa

Identifiers

PMID42643619
PMCPMC13504459

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.