ArticleFrontiers in medicine2026
Compound heterozygous variants in
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: This study aims to explore the clinical characteristics, genetic etiology, and individualized treatment strategies of patients with PCOS complicated by oocyte maturation disorders caused by novel compound heterozygous variants of the Methods: Clinical data and two cycles of controlled ovarian hyperstimulation (COH) were collected from a 34-year-old patient with primary infertility and PMOS. Genetic analysis was performed using whole-exome sequencing (WES), and variant pathogenicity was predicted by bioinformatics tools. An individualized COH protocol was designed and implemented based on the genetic diagnosis. Results: The patient had 8 years of primary infertility. In the first cycle, 10 oocytes were retrieved after COH with an antagonist protocol, all arrested at the germinal vesicle (GV) stage. WES revealed compound heterozygous variants in the PATL2 gene (OMIM: 617743): NM_001145112.1: c.1225-2A > G (splice-site variant) and c.1382 T > C (p.Leu461Pro, missense variant), consistent with autosomal recessive inheritance. Both variants were predicted to be deleterious, and c.1382 T > C was a novel unreported variant. In the second cycle, a long follicular protocol, delayed trigger, segmented oocyte retrieval, and indomethacin for spontaneous ovulation prevention were applied. A total of 24 oocytes were retrieved; however, all remained arrested at the GV stage after Conclusion: Compound heterozygous variants c.1225-2A > G and c.1382 T > C in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.