Evidence map›Paper›PMID 40156064›Full record

ArticleItalian journal of pediatrics2025

Novel compound heterozygous OBSCN variants in Chinese children with congenital pulmonary airway malformation.

Jiali Xu, Siyu Ma, Zhaocong Yang, Yang Xu, Jirong Qi, Min Da, Xuming Mo

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Italian journal of pediatrics, 2025. 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.

  1. 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.

Jiali Xu *Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China.
Siyu Ma *Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China.
Zhaocong YangDepartment of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China.
Yang XuDepartment of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China.
Jirong QiDepartment of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China.
Min DaDepartment of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China. damingirlnanjing@126.com.
Xuming MoDepartment of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China. mohsuming15@njmu.edu.cn.ORCID http://orcid.org/0000-0002-2264-6123

Funding

General project of Nanjing Health Commission YKK22164National Natural Science Foundation of China 81970265National Natural Science Foundation of China 82000303Natural Science Foundation of Jiangsu Province BK20240262Sub-project of the National Key R&D Program of China 2021YFC2701002
6 · The paper itself

Abstract

backgroundCongenital pulmonary airway malformation (CPAM) belongs to rare lung abnormalities which may result in poor lung development outcomes. However, the etiology of CPAM has not been well described.

methodsIn this study, whole-exome sequencing (WES) technology was used to sequence 9 CPAM families to screen the pathogenic genes and their mutations for CPAM. Sanger sequencing was performed for verify the functions of these mutations.

resultsWe found compound heterozygous mutations in OBSCN gene in two patients with CPAM: one with p.G8837A mutation inherited from her father and p.G1126S mutation inherited from her mother; the other with p.R5167W mutation inherited from his father and p.A7475T mutation inherited from his mother. Immunofluorescence results showed that the expression of OBSCN protein in the central lung tissue of CPAM patients was lower than that in the distal lung tissue of the lesion, and the expression of OBSCN protein was decreased in OBSCN mutated. We further explored the expression of OBSCN during mouse lung development, confirming that the gene mainly acts on the pseudoglandular stage.

conclusionsThe OBSCN gene may play a key role in pseudoglandular stage during mouse lung development. The mutation of OBSCN gene may play a role in promoting the occurrence of CPAM, providing a possible therapeutic target for clinical intervention of CPAM.

Indexed as

Cystic Adenomatoid Malformation of Lung, CongenitalMutationAnimalsChildChild, PreschoolChinaEast Asian PeopleExome SequencingFemaleHeterozygoteHumansInfantMaleMicePedigreeCompound heterozygousCPAMGenetic mutationsOBSCN

Identifiers

PMID40156064
PMCPMC11951563

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.