Evidence map›Paper›PMID 39166703›Full record

ArticleAmerican journal of medical genetics. Part A2025

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Lisa Saba, Robin Fletcher, Matthew L Tedder, Bekim Sadikovic, Jennifer Kerkhof, Michael Wangler, Carlos A Bacino and 1 more

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

Article in American journal of medical genetics. Part A, 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. Review
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.

Ryan J GermanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0001-8193-7329
Blake VuocoloDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Liesbeth VossaertDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Lisa SabaDepartment of Pathology, Texas Children's Hospital, Houston, Texas, USA.
Robin FletcherGreenwood Genetic Center, Greenwood, South Carolina, USA.
Matthew L TedderGreenwood Genetic Center, Greenwood, South Carolina, USA.
Bekim SadikovicVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.ORCID 0000-0001-6363-0016
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Michael WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Texome Project

Funding

UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI ROSENMUND, CHRISTIAN · 1988 to 2013
$29.4M
Genomic medicine and gene function implementation for an underserved populationR01HG011795 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J, WANGLER, MICHAEL FRANCIS · 2021 to 2025
$4.8M
Jan and Dan Neurological Research InstituteNHGRI NIH HHS R01 HG011795NHGRI NIH HHS R01HG011795NICHD NIH HHS P30 HD024064
6 · The paper itself

Abstract

We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.G302A) who presented with a history of recurrent carotid paragangliomas, mediastinal mass, intellectual disability, dysarthria, cholelithiasis, diabetes mellitus, hypertension, and dysmorphic features. We interpret this novel variant as likely pathogenic and causative for the patient's syndromic features of Heyn-Sproul-Jackson syndrome. Heyn-Sproul-Jackson syndrome is a condition caused by gain-of-function genetic changes in DNMT3A. Paragangliomas have also been observed in non-syndromic patients with genetic alterations in DNMT3A. We describe a patient with clinical features of Heyn-Sproul-Jackson syndrome such as intellectual disability, dysarthria, brachydactyly, and lack of brain MRI findings to add evidence to associate paragangliomas with DNMT3A and draw particular attention to the potential involvement of the proline-tryptophan-tryptophan-proline domain of DNMT3A.

Indexed as

DNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3AMutation, MissenseParagangliomaAdultFemaleHeterozygoteHumansIntellectual DisabilityPhenotypeSyndromeDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3ADNMT3A protein, humanDNMT3Aexome sequencinghypermethylationparaganglioma

Identifiers

PMID39166703
PMCPMC11637962

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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 OpenQuestion graph.