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Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome

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Fig. 1: Clinical pictures and pedigree of the two TBRS patients.
Fig. 2: EpiSign (DNA methylation) analysis of peripheral blood from the proband and his father with the p.(Arg736Cys) DNTM3A variant.

Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.


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We thank the patients and their families for participating in this study.


No funding or financial assistance was received in support of the study.

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Authors and Affiliations



CK saw the patients, contributed to variant interpretation, and wrote the manuscript. ED contributed to data analysis and exome-based analysis. OMV saw the patients, contributed to variant interpretation, and assisted in manuscript preparation. ED was involved in exome data analysis. JK, HM, MA, and BS performed methylation studies and the EpiSign analysis.

Corresponding author

Correspondence to Candy Kumps.

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Competing interests

The authors declare no competing interests.

Ethical approval

Informed consent for trio-based whole exome sequencing and for the publication of clinical data and photographs were obtained from the patients. Ethical approval was not required by our ethics committee, given the fact that this research concerns a case report.

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Kumps, C., D’haenens, E., Kerkhof, J. et al. Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome. Eur J Hum Genet 31, 1350–1354 (2023).

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