Evidence map›Paper›PMID 40417234›Full record

ArticleFrontiers in genetics2025

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.

Tao Lin, Zheyan Chen, Biwen Dong, Haojie Pan, Hai Wang, Xianjue Zheng, Kaixin Chen, Yanan Lai, Chenhui Zhang, Ye Dong and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

24 authors.

Tao LinDepartment of Gynecology and Obstetrics, Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Zheyan ChenDepartment of Plastic and Aesthetic Surgery, Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Biwen DongDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Haojie PanDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Hai WangDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Xianjue ZhengDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Kaixin ChenDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Yanan LaiDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Chenhui ZhangDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Ye DongDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Zitong XuDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Menmen LinDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Xiujie XiDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Shuqi XiaDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Yimin WangDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Wenhan WangWenzhou City Key Laboratory of Gynecology and Obstetrics, Wenzhou, Zhejiang, China.
Xiaoqing LiWenzhou City Key Laboratory of Gynecology and Obstetrics, Wenzhou, Zhejiang, China.
Congcong SunWenzhou City Key Laboratory of Gynecology and Obstetrics, Wenzhou, Zhejiang, China.
Yanjun HuDepartment of Gynecology and Obstetrics, Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Fang XuDepartment of Gynecology and Obstetrics, Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Jianqiong ZhengDepartment of Gynecology and Obstetrics, Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Fan JinDepartment of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hanzhou, China.
Hongping ZhangDepartment of Gynecology and Obstetrics, Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.
Jiayong ZhengDepartment of Reproductive Genetics, Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University/The Third Affiliated Hospital of Shanghai University/Wenzhou People's Hospital/Wenzhou Maternal and Child Healthcare Hospital, Wenzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder characterized by café-au-lait macules, neurofibromas, and other manifestations. It is caused by variations in the Case presentation: A 26-year-old Chinese woman was admitted to our hospital with multiple café-au-lait spots and cutaneous nodules. She had a family history of NF1, with her mother also showing similar dermatological symptoms. Whole exome sequencing (WES) identified a synonymous variation, NM_001042492.3: c.987A>G (p.K329K), in the Conclusion: The case highlights the critical role of synonymous variations in the

Indexed as

neurofibromatosis type 1NF1splicing variantsynonymous variationwhole-exome sequencing

Identifiers

PMID40417234
PMCPMC12098384

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