Identification of Two Novel Variants in

Jianlong Zhuang, Nan Huang, Yu E Chen, Haijuan Lou, Junyu Wang, Wanyu Fu, Chunnuan Chen

Abstract read

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.

Identification of Two Novel Variants 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

7 authors.

Jianlong ZhuangPrenatal Diagnosis Center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, China.ORCID https://orcid.org/0000-0001-8087-205X

Nan HuangThe Teaching and Research Office of Clinical Laboratory Medicine, Quanzhou Medical College, Quanzhou, China, qzygz.com.

Yu E ChenDepartment of Ultrasound, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian, China.

Haijuan LouResearch and Development Department, Be Creative Lab Co. Ltd., Beijing, China.

Junyu WangPrenatal Diagnosis Center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, China.

Wanyu FuPrenatal Diagnosis Center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, China.ORCID https://orcid.org/0009-0001-8542-5491

Chunnuan ChenDepartment of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China, fjmu.edu.cn.ORCID https://orcid.org/0000-0002-8906-3184

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Genetic variants are the leading cause of congenital cataract (CC). To date, numerous genes have been implicated in the development of CC. The objective of the present study was to report two previously unrecognized gene variants associated with CC in two unrelated Chinese families, identified through whole exome sequencing (WES). Methods: Two unrelated Chinese families affected by CC were recruited. Cytogenetic and molecular genetic analyses were performed using karyotyping, chromosomal microarray analysis (CMA), and WES. In addition, RNA sequencing was conducted to assess differentially expressed genes in affected individuals compared with healthy controls. Results: Karyotype and CMA elicited none of chromosome abnormalities in both of the families. However, WES revealed a novel missense variant NM_006891.4:c.154 T > C(p.S52P) in the Conclusion: The present study reports, for the first time, two novel variants in

Indexed as

Cataractgamma-CrystallinsPhosphoric Monoester HydrolasesChinaEast Asian PeopleExome SequencingFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMutationPedigreegamma-CrystallinsOCRL protein, humanPhosphoric Monoester Hydrolasescongenital cataractCRYGDOCRLRNA sequencingwhole exome sequencing

Identifiers

PMID42111499

DOI10.1155/humu/3884362

PMCPMC13154382

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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.