Latest findings and study opportunities


The Tatton Brown Rahman Syndrome Community is committed to supporting collaborative research into this rare disease. Already, we have forged partnerships with a number of researchers and clinicians, and we continue to expand our network of investigators, with the goals of understanding the syndrome and developing potential therapeutics.

In 2020, the TBRS Community anticipates having a patient registry.

We welcome all families to participate in these studies and can answer any questions you have. Please email us or sign up for our newsletter below for updates.

Patient registry

The TBRS Community is developing a patient registry in partnership with the National Organization for Rare Disorders. This secure, anonymized database will help clinicians and scientists better understand TBRS and identify opportunities for research. We ask all families to contribute to the registry once it is available.

Because TBRS is such a new and rare syndrome, very little is known about the array of symptoms or how to intervene and relieve them. It is critical for progress in understanding and, in the future, treating the disease to have as much data as possible at the disposal of doctors and researchers. Your participation is essential!

Sign up for our newsletter below to be alerted when you can join.

Participate in research

Dr. Tim Ley at Washington University School of Medicine in St. Louis and Dr. Ayala Tovy in the lab of Dr. Peggy Goodell of Baylor College of Medicine in Houston are seeking tissue samples for research on DNMT3A, the gene that underlies TBRS. Dr. Ley’s lab is interested in the role of mutations in leukemia, and Dr. Tovy studies the gene’s function in stem cells, development, the production of blood cells, and leukemia. These projects may help shed light on how variants of DNMT3A contribute to TBRS and clarify if different blood populations are affected in TBRS individuals and whether these individuals are at a higher risk of blood cancer.

Individuals with TBRS who would like to contribute to these important research projects can submit clinical data, and/or blood samples and a cheek swab. This requires working with a clinical lab or doctor’s office to perform a blood draw, which families have been able to obtain at no cost, and the shipping materials and costs are furnished by the researchers. Importantly, parents and siblings of TBRS individuals can also contribute to this research by submitting their blood as well.

To learn more, contact:
Sharon Heath at Washington University:
Dr. Ayala Tovy at Baylor:

Simons Searchlight is studying the genetics that underlie autism spectrum disorders. Because a number of individuals with autism have variants in DNMT3A, this gene is one of many that the Simons Searchlight is interested in. Individuals with a confirmed genetic report of a DNMT3A variant can participate in their study by filling out an online questionnaire and speaking with a researcher in a telephone interview.

Published studies

For a list of publications on TBRS, see PubMed. If any of the following papers are paywalled, please email us and we may be able to obtain a copy with permission. Papers with an * are freely available to read.

A. Tovy et al., “Tissue-biased expansion of DNMT3A-mutant clones in a mosaic individual is associated with conserved epigenetic erosion,” Cell Stem Cell, 27:326-335.e4, 2020.

T.B. Balci et al., “Tatton‐Brown‐Rahman syndrome: Six individuals with novel features,” American Journal of Medical Genetics, doi:10.1002/ajmg.a.61475, 2020.

*C.G. Lee 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, 24:253-6, 2019.

C. Lane et al., “Tatton‐Brown‐Rahman syndrome: cognitive and behavioural phenotypes,” Developmental Medicine & Child Neurology, doi:10.1111/dmcn.14426, 2019.

C. Hage et al., “Acromegaly in the setting of Tatton-Brown-Rahman Syndrome,” Pituitary, doi:10.1007/s11102-019-01019-w, 2019.

J. Tenorio, “Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients,” European Journal of Human Genetics, doi:10.1038/s41431-019-0485-3, 2019.

K.J. Sweeney et al., “The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome,” American Journal of Medical Genetics, doi:10.1002/ajmg.a.61180, 2019.

*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.

W. Shen et al., “The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies,” American Journal of Medical Genetics, doi:10.1002/ajmg.a.38485, 2017.

*K. Tatton-Brown et al., “Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability,” AJHG, 100:P725-6, 2017.

I.H.I.M. Hollink et al., “Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation,” Journal of Medical Genetics, 54:805-8, 2017.

G. Lemire et al., “A case of familial transmission of the newly described DNMT3A‐Overgrowth Syndrome,” American Journal of Medical Genetics, doi:10.1002/ajmg.a.38119, 2017.

B. Xin et al., “Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome,” Clinical Genetics, doi:10.1111/cge.12878, 2016.

R. Kosaki et al., “Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation,” American Journal of Medical Genetics, doi:10.1002/ajmg.a.37995, 2016.

N. Okamoto et al., “Tatton-Brown-Rahman syndrome due to 2p23 microdeletion,” American Journal of Medical Genetics, doi:10.1002/ajmg.a.37588, 2016.

K. Tatton-Brown et al., “Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability,” Nature Genetics, 46:385-8, 2014.