Evidence map›Paper›PMID 39375747›Full record

ArticleOrphanet journal of rare diseases2024

A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.

Tingting Zhao, Fan Yang, Bingbing Zhang, Yongyong Ren, Jiuzhou Yuan, Yu Wang, Hui Lu, Guangjun Yu, Jincai Feng

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. 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

9 authors.

Tingting Zhao *Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Bio-medical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Fan Yang *Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Bingbing ZhangKunming Medical University Haiyuan College, Yunnan, China.
Yongyong RenSJTU-Yale Joint Center for Biostatistics and Data Science, National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China.
Jiuzhou YuanDepartment of Rehabilitation, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yu WangDepartment of Rehabilitation, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Hui LuShanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Bio-medical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Guangjun YuShanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Bio-medical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. gjyu@shchildren.com.cn.
Jincai FengDepartment of Rehabilitation, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. fengjc@shchildren.com.cn.ORCID 0000-0002-9724-0398

Funding

Society for Epidemiologic Research Doctoral Dissertation WorkshopR13TR002021 · NCATS · BOSTON UNIVERSITY MEDICAL CAMPUS · PI HARLOW, BERNARD L · 2017 to 2018
$46k
Clinical Research Plan of SHDC SHDC2020CR6028National Key R&D Program of China grant 2022YFC2703103Open Project Program of National Research Center for Translational Medicine (Shanghai) TMSK-2021-142
6 · The paper itself

Abstract

backgroundPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from variants of TCF4 gene. PTHS follows an autosomal dominant inheritance pattern and the underlying pathological mechanisms of this disease are still unclear.

methodsWhole-genome sequencing (WGS) was conducted to screen for potential pathogenic variant in a boy highly suspected of having a genetic disorder. PCR and Sanger sequencing were used to verify the effects of the variant. Serum TCF4 levels were measured by ELISA.

resultsWe present a 4-year and 3-month-old Chinese boy clinically and molecularly diagnosed with PTHS. The proband experienced global development delay, and the preliminary clinical diagnosis was cerebral palsy. WGS identified a de novo heterozygous variant: c.*1A > G in the 3'UTR of the TCF4 gene as a potential cause of his condition. The variant was verified to cause aberrant mRNA splicing by PCR and the aberrant splicing was confirmed by Sanger sequencing.

conclusionThe study identified and demonstrated the pathogenicity of a novel 3'UTR site TCF4 variant for the first time. This research enhances understanding of pathogenetic mechanisms of PTHS and aids genetic counseling and diagnosis.

Indexed as

3' Untranslated RegionsHyperventilationIntellectual DisabilityTranscription Factor 4Child, PreschoolFaciesHumansMaleMutation3' Untranslated RegionsTCF4 protein, humanTranscription Factor 4Clinically diagnosedMolecularly diagnosedPitt-Hopkins syndromeTCF4Whole-genome sequencing

Identifiers

PMID39375747
PMCPMC11457474

What Socratic 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 Socratic graph.