Evidence map›Paper›PMID 39209150›Full record

ArticleEuropean journal of medical genetics2024

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.

Nan Jiang, Wenyuan Xu, Aliaa Abdelhakim, Anastasiya Matveyenko, Matthias Szabolcs, William C Copeland, Michele Disco, Alejandro Iglesias, Teresa M Lee, Ali Naini and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of medical genetics, 2024. 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

11 authors.

Nan JiangDepartment of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, United States; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Wenyuan XuDepartment of Pediatrics, Columbia University Irving Medical Center, Columbia, 10032, United States.
Aliaa AbdelhakimDepartment of Pediatrics, Columbia University Irving Medical Center, Columbia, 10032, United States; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Vagelos College of Physicians and Surgeons and New York Presbyterian Hospital, New York, NY, United States.
Anastasiya MatveyenkoDepartment of Medicine, Columbia University Irving Medical Center, New York, NY, United States.
Matthias SzabolcsDepartment of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, United States.
William C CopelandGenome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, United States.
Michele DiscoDepartment of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, United States; Department of Pediatrics, Columbia University Irving Medical Center, Columbia, 10032, United States.
Alejandro IglesiasDepartment of Pediatrics, Columbia University Irving Medical Center, Columbia, 10032, United States.
Teresa M LeeDepartment of Pediatrics, Columbia University Irving Medical Center, Columbia, 10032, United States.
Ali NainiDepartment of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, United States; Department of Neurology, Columbia University Irving Medical Center, New York, NY, United States. Electronic address: abn2@cumc.columbia.edu.
Mythily GanapathiDepartment of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, United States. Electronic address: mg3560@cumc.columbia.edu.

Funding

Molecular Study Of The Mitochondrial DNA PolymeraseZ01ES065078 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI COPELAND, WILLIAM · 1994 to 2008
$2.8M
Intramural NIH HHS Z01 ES065078
6 · The paper itself

Abstract

TAF1A, a gene encoding a TATA-box binding protein involved in ribosomal RNA synthesis, is a candidate gene for pediatric cardiomyopathy as biallelic TAF1A variants were reported in two families with affected individuals. Here, we report a third family with two siblings who presented with infantile restrictive cardiomyopathy and carried biallelic missense variants in TAF1A (NM_001201536.1:c.1021G>A p.(Gly341Arg) and c.781A>C p.(Thr261Pro)). Additional shared clinical features in the siblings included feeding intolerance, congenital leukoencephalopathy, ventriculomegaly and concern for primary immunodeficiency. The first-born sibling passed away at 6 months of age due to complications of hemophagocytic lymphohistiocytosis (HLH) whereas the second sibling underwent cardiac transplantation at 1 year of age and is currently well. We compare the clinical and molecular features of all the TAF1A associated cardiomyopathy cases. Our study adds evidence for the gene-disease association of TAF1A with autosomal recessive pediatric cardiomyopathy.

Indexed as

Cardiomyopathy, RestrictiveMutation, MissenseSiblingsTATA-Binding Protein Associated FactorsTranscription Factor TFIIDAllelesFemaleHistone AcetyltransferasesHumansInfantMalePedigreePhenotypeHistone AcetyltransferasesTATA-binding protein associated factor 250 kDaTATA-Binding Protein Associated FactorsTranscription Factor TFIIDAutosomal recessiveCardiac transplantDilated cardiomyopathyPediatric cardiomyopathyRestrictive cardiomyopathyRibosomal RNA synthesisRibosomopathyTAF1A

Identifiers

PMID39209150
PMCPMC11426185

What Socratic holds

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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.