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Clinical Findings

Clinical Findings

“Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability”

Nature Genetics, 46:385–388, 2014.
K. Tatton‑Brown et al.

“Tatton‑Brown‑Rahman syndrome due to 2p23 microdeletion”

American Journal of Medical Genetics, 2016. doi: 10.1002/ajmg.a.37588.
N. Okamoto et al.

“SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort”

Journal of Medical Genetics, 53(11):743–751, 2016. doi: 10.1136/jmedgenet-2015-103638.
C. Tlemsani et al.

“Novel DNMT3A germline mutations are associated with inherited Tatton‑Brown‑Rahman syndrome”

Clinical Genetics, 2016. doi: 10.1111/cge.12878.
B. Xin et al.

“A case of familial transmission of the newly described DNMT3A‑Overgrowth Syndrome”

American Journal of Medical Genetics, 2017. doi: 10.1002/ajmg.a.38119.
G. Lemire et al.

“Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability”

AJHG, 100:P725–726, 2017.
K. Tatton‑Brown et al.

“The Tatton‑Brown‑Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants”

Wellcome Open Research, 3:46, 2018.
K. Tatton‑Brown et al.

“Seventeen-year observation in a Japanese female case of Tatton‑Brown‑Rahman syndrome: overgrowth syndrome with intellectual disability”

ESPE Abstracts, 89:P-P2-273, 2018.
Y. Miyoshi et al.

“Co‑occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature”

Cold Spring Harbor Molecular Case Studies, 4(4):a002899, 2018. doi: 10.1101/mcs.a002899.
K. Polonis et al.

“Acromegaly in the setting of Tatton‑Brown‑Rahman Syndrome”

Pituitary, 2019. doi: 10.1007/s11102-019-01019-w.
C. Hage et al.

“First identified Korean family with Tatton‑Brown‑Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)”

Annals of Pediatric Endocrinology & Metabolism, 24:253–256, 2019.
C.G. Lee et al.

“Tatton‑Brown‑Rahman syndrome: Six individuals with novel features”

American Journal of Medical Genetics, 2020. doi: 10.1002/ajmg.a.61475.
T.B. Balci et al.

“Tatton‑Brown‑Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder”

Human Genome Variation, 7:15, 2020. doi: 10.1038/s41439-020-0102-6.
T. Yokoi et al.

“Tatton‑Brown‑Rahman syndrome associated with the DNMT3A gene: a case report and literature review”

Chinese Journal of Contemporary Pediatrics, 22(10):1114–1118, 2021. doi: 10.7499/j.issn.1008-8830.2004078.
M. Chen et al.

“Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‑Brown‑Rahman syndrome”

American Journal of Medical Genetics Part A, 2021. doi: 10.1002/ajmg.a.62541.
A.C. Cecchi et al.

“Case report: Bilateral epiphysiodesis due to extreme tall stature in a girl with a de novo DNMT3A variant associated with Tatton‑Brown‑Rahman Syndrome”

Frontiers in Endocrinology, 12:752756, 2021. doi: 10.3389/fendo.2021.752756.
O. Lennartsson et al.

“Tatton‑Brown‑Rahman syndrome”

In: M.P. Adam et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. Published 2022 Jun 30.
P.J. Ostrowski, K. Tatton‑Brown

“The disordered N-terminal domain of DNMT3A recognizes H2AK119ub and is required for postnatal development”

Nature Genetics, 54(5):625–636, 2022. doi: 10.1038/s41588-022-01063-6.
T. Gu et al.

“Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton‑Brown‑Rahman syndrome and Say‑Barber‑Biesecker‑Young‑Simpson variant of Ohdo syndrome”

Frontiers in Genetics, 13:903199, 2022. doi: 10.3389/fgene.2022.903199.
S. Park et al.

“A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn‑Sproul‑Jackson syndrome”

Frontiers in Pediatrics, 11:1165638, 2023. doi: 10.3389/fped.2023.1165638.
G.H. Kim et al.

“Treatment of Primary Hyperparathyroidism in the Setting of Tatton‑Brown‑Rahman Syndrome”

American Journal of Surgery, 89(7):3203–3204, 2023. doi: 10.1177/00031348231157840.
G.H. Kalil et al.

“Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton‑Brown‑Rahman syndrome”

European Journal of Human Genetics, 31(12):1350–1354, 2023. doi: 10.1038/s41431-023-01459-w.
C. Kumps et al.

“Tatton‑Brown‑Rahman syndrome: Novel pathogenic variants and new neuroimaging findings”

American Journal of Medical Genetics Part A, 194(2):211–217, 2024. doi: 10.1002/ajmg.a.63434.
M. Jiménez de la Peña et al.

“Expanding the genetic and clinical spectrum of Tatton‑Brown‑Rahman syndrome in a series of 24 French patients”

Journal of Medical Genetics, 61(9):878–885, 2024. doi: 10.1136/jmg-2024-110031.
H. Thomas et al.

Back to Published Research

Neuropsychiatric and behavioral

intellectual disability, autism, memory formation

Genetics and epigenetics

DNA methylation, animal models, gene regulation

Cancer and blood disorders

leukemia risk, hematopoietic mutations, R882 mutation
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