Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of medical genetics. Part A - 1 Jan 2025

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA (Cytosine-5-)-Methyltransferases
Share to DNA Methyltransferase 3A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Intellectual Disability

Share to Mutation, Missense

Share to Paraganglioma

Share to Phenotype

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 39166703
DOI: 10.1002/ajmg.a.63849
PMCID: PMC11637962

Genes

DNMT3A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.PMID 39166703Read ↗

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid CarcinomaSemantic proximity Read ↗

Gain-of-function mutations in DNMT3A in patients with paraganglioma.Semantic proximity Read ↗

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.Semantic proximity Read ↗

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).Semantic proximity Read ↗

The DNA methyltransferase complex conundrum: novel DNA methyltransferase 1 mutation in an Indian patient with dementia and sensory neural hearing loss on a background of long-standing psychosis.Semantic proximity Read ↗

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.Semantic proximity Read ↗

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.Semantic proximity Read ↗

Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.Semantic proximity Read ↗

MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumoursSemantic proximity Read ↗

Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islands.Semantic proximity Read ↗

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31.Semantic proximity Read ↗

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.