Evidence map›Paper›PMID 42697961›Full record

ArticleJournal of human genetics2026

Biallelic nonsense variants in GAS8 associated with asthenoteratozoospermia and PCD-like symptoms.

Mingjia Zhao, Shuyu Guo, Lanxi Ran, Yue Meng, Yijia Zhao, Jing Wang, Binbin Wang

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Article in Journal of human 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.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

7 authors.

Mingjia Zhao *Department of Reproduction and Genetics, Tangshan Maternity and Child Health Care Hospital, Hebei, China.
Shuyu Guo *Center for Genetics, National Research Institute for Family Planning, Beijing, China.
Lanxi RanCenter for Genetics, National Research Institute for Family Planning, Beijing, China.
Yue MengCenter for Genetics, National Research Institute for Family Planning, Beijing, China.
Yijia ZhaoCenter for Genetics, National Research Institute for Family Planning, Beijing, China.
Jing WangDepartment of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing, China.
Binbin WangCenter for Genetics, National Research Institute for Family Planning, Beijing, China. wbbahu@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 28-year-old infertile male presenting with markedly reduced progressive sperm motility and severe morphological abnormalities (normal morphology rate: 1%), accompanied by primary ciliary dyskinesia (PCD)-like symptoms, including chronic rhinitis, adolescent nasal polypectomy, and persistent rhinorrhea. Transmission electron microscopy (TEM) revealed ultrastructural defects involving the sperm head, nucleus, and flagellar axoneme. Whole-exome sequencing (WES) identified two novel compound heterozygous nonsense variants in the GAS8 gene: c.280 G > T (p.Glu94Ter) and c.382 C > T (p.Gln128Ter). Based on these findings, testicular sperm aspiration (TESA) combined with intracytoplasmic sperm injection (ICSI) was performed, resulting in a biochemical pregnancy. This case expands the mutational and phenotypic spectrum of GAS8 and provides additional clinical evidence relevant to genetic diagnosis, genetic counseling, and assisted reproductive management of male infertility accompanied by PCD-like symptoms.

Identifiers

PMID42697961

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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.