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Article

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

European journal of human genetics : EJHG - 1 May 2026

Mehta Sarju G, Holden Simon, Babar Judith, Karia Sumit, Wetscherek Maria T A, Barker Allanah P, White Jessica, Lee Sunwoo Liv, Foster Alison, Maher Eamonn R, Marciniak Stefan J

Abstract excerpt

Spontaneous pneumothorax is a common respiratory presentation that may signal underlying genetic disease. Familial pneumothorax occurs in ~10% of primary cases, yet 75% remain genetically unclassified. We report identical twin brothers presenting with spontaneous pneumothoraces in adulthood, leading to a diagnosis of Tatton-Brown-Rahman syndrome (TBRS), a DNMT3A-related overgrowth disorder not previously...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Twins, Monozygotic

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Identifiers

PMID: 41741684
DOI: 10.1038/s41431-026-02034-9
PMCID: PMC13172378

Genes

DNMT3A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.PMID 41741684Read ↗

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsSemantic proximity Read ↗

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Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.Semantic proximity Read ↗

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Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.Semantic proximity Read ↗

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndromeSemantic proximity Read ↗

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

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation.Semantic proximity Read ↗

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