Evidence map›Paper›PMID 37831349›Full record

ArticleJournal of assisted reproduction and genetics2024

A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.

Asim Ali, Ahsanullah Unar, Zubair Muhammad, Sobia Dil, Beibei Zhang, Humaira Sadaf, Manan Khan, Muhammad Ali, Ranjha Khan, Kakakhel Mian Basit Shah and 5 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of assisted reproduction and genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
2.7field-weighted citation impact, top 10% of its field
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

5 citing papers in PubMed, 10 citations in OpenAlex.

  1. The kinesin-4 protein KIF27 forms a cytoskeletal scaffold at the transition zone to promote motile cilia structural integrity.Proceedings of the National Academy of Sciences of the United States of America · 2025
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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

15 authors at 4 institutions in 2 countries.

Asim AliDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China. asim21pk@ustc.edu.cn.ORCID http://orcid.org/0000-0001-5791-7918
Ahsanullah UnarDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Zubair MuhammadDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Sobia DilDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Beibei ZhangDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Humaira SadafDepartment of Obstetrics and Gynecology, Ayub Medical Hospital Complex, Abbottabad, Pakistan.
Manan KhanDepartment of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Pakistan.
Muhammad AliDepartment of Biotechnology, COMSATS University Islamabad, Abbottabad Campus, Abbottabad, 22060, Pakistan.
Ranjha KhanDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Kakakhel Mian Basit ShahDepartment of Biotechnology, COMSATS University Islamabad, Abbottabad Campus, Abbottabad, 22060, Pakistan.
Ao MaDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Xiaohua JiangDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Yuanwei ZhangDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Huan ZhangDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China.
Qinghua ShiDivision of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 230027, China. qshi@ustc.edu.cn.
University of Science and Technology of China · CNCOMSATS University Islamabad · PKAyub Medical College · PKHazara University · PK

Funding

China's National Foundation for Natural Sciences 31871514China's National Foundation for Natural Sciences 82071709National Key Research and Development Program of China 2018YFC1003900National Key Research and Development Program of China 2019YFA0802600
6 · The paper itself

Abstract

purposeAsthenozoospermia is an important cause of male infertility, and the most serious type is characterized by multiple morphological abnormalities of the sperm flagella (MMAF). However, the precise etiology of MMAF remains unknown. In the current study, we recruited a consanguineous Pakistani family with two infertile brothers suffering from primary infertility due to MMAF without obvious signs of PCD.

methodsWe performed whole-exome sequencing on DNAs of the patients, their parents, and a fertile brother and identified the homozygous missense variant (c.1490C > G (p.P497R) in NPHP4 as the candidate mutation for male infertility in this family.

resultsSanger sequencing confirmed that this mutation recessively co-segregated with the MMAF in this family. In silico analysis revealed that the mutation site is conserved across different species, and the identified mutation also causes abnormalities in the structure and hydrophobic interactions of the NPHP4 protein. Different bioinformatics tools predict that NPHP4

conclusionsTaken together, these results show that the homozygous missense mutation in NPHP4 is associated with MMAF.

Indexed as

Infertility, MaleSiblingsFlagellaHumansMaleMutationMutation, MissenseProteinsSemenSpermatozoaSperm TailNPHP4 protein, humanProteinsCentral pairMale infertilityMMAFNPHP4WES

Identifiers

PMID37831349
PMCPMC10789708
OpenAlexW4387598462

What OpenQuestion 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 OpenQuestion graph.