Evidence map›Paper›PMID 40259394›Full record

ArticleHuman genomics2025

Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.

Lianni Mei, Chunchun Hu, Guangbo Jin, Chuanhui Ge, Yiting Zhu, Dongyun Li, Wenzhu Peng, Huiping Li, Xiu Xu, Yan Jiang and 2 more

Abstract readTwin Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2025. 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Lianni MeiDepartment of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Chunchun HuDepartment of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Guangbo JinInstitutes of Biomedical Sciences, Shanghai Xuhui Central Hospital, Medical College of Fudan University, Chinese Academy of Medical Sciences (RU069), Shanghai, China.
Chuanhui GeInstitutes of Brain Science, State Key Laboratory of Medical Neurobiology, and MOE Frontier Center for Brain Science, Fudan University, Shanghai, China.
Yiting ZhuDepartment of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Dongyun LiDepartment of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Wenzhu PengInstitutes of Brain Science, State Key Laboratory of Medical Neurobiology, and MOE Frontier Center for Brain Science, Fudan University, Shanghai, China.
Huiping LiDepartment of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Xiu XuDepartment of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Yan JiangInstitutes of Brain Science, State Key Laboratory of Medical Neurobiology, and MOE Frontier Center for Brain Science, Fudan University, Shanghai, China.
Guoliang XuInstitutes of Biomedical Sciences, Shanghai Xuhui Central Hospital, Medical College of Fudan University, Chinese Academy of Medical Sciences (RU069), Shanghai, China. xugl@fudan.edu.cn.
Qiong XuDepartment of Child Health Care, Children's Hospital of Fudan University, Shanghai, China. xuqiong@fudan.edu.cn.

Funding

Academic Leaders Development Program of Children's Hospital of Fudan University EKXDPY202306China Medical Board 22-471Nature Science Research Project of Anhui province 2308085MH255
6 · The paper itself

Abstract

Neurodevelopmental disorders (NDDs) pose significant challenges due to their impact on cognitive, social and motor abilities, often rooted in genetic factors such as copy number variations (CNVs) and single nucleotide variantions (SNVs). Molecular genetic testing, advanced due to sequencing technologies, is instrumental in diagnosing NDDs, with twins offering unique perspectives in detecting novel de novo CNVs and SNVs. The study enrolled 32 pairs of twins that underwent molecular genetic testing and comprehensive clinical data collection. Additionally, we analyzed the potential deleterious effects of a novel de novo TET methylcytosine dioxygenase 3 (TET3) variant (c.4927G > A) using western blotting, immunofluorescence assay and enzymatic activity assay. Analyzing simultaneously, the overall detection yield of molecular genetic testing was 17.2% (11/64). Children with disease-related genetic variants had lower total developmental quotients (DQ) than children without disease-related genetic variants. One pair of monozygotic twins carried a novel de novo TET3 variant. Immunostaining assay revealed that while the wildtype TET3 protein was evenly distributed in the nucleus, the variant was concentrated around the nucleus. Anenzymatic assay using corresponding TET2 mutants suggested that the variant has a significantly reduced activity. Taken together, our study elaborated molecular genetic testing results of 32 pairs of twins and found that children with lower developmental levels are prone to possessing identifiable genetic variants. We reported the clinical phenotype of a pair of monozygotic twins carrying a novel de novo TET3 variant and confirmed the detrimental effects of this variant in vitro.

Indexed as

DioxygenasesDNA-Binding ProteinsGenetic TestingNeurodevelopmental DisordersProto-Oncogene ProteinsAdolescentChildChild, PreschoolCohort StudiesDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseHumansInfantMalePolymorphism, Single NucleotideDioxygenasesDNA-Binding ProteinsProto-Oncogene ProteinsTET3 protein, humanDevelopmental levelMolecular genetic testingNeurodevelopmental disordersTET3Twin pairs

Identifiers

PMID40259394
PMCPMC12013076

What Socratic holds

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LicenceCC BY-NC-ND
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Registered trials

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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 Socratic graph.