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The role of TBX18 in congenital heart defects in humans not confirmed

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Data availability

Data generated as part of this study are available from the corresponding author upon reasonable request.


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We would like to thank all patients involved. We also thank Kate Mc Intyre for editing the manuscript, Ludolf Boven for assisting in the lab and Jan Jongbloed for assisting in patient selection.


This work was supported by a grant from ZonMw (113312101) and by crowdfunding organised by Chromosome 6 parents. AE is the recipient of a Junior Scientific Masterclass MD/PhD scholarship from the University Medical Center Groningen.

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Authors and Affiliations



Conceptualisation: AE, WSK-F. Data curation: AE, KMA. Formal analysis: AE, KMA. Funding acquisition: AE, CMAR-A. Investigation: AE. Methodology: AE, WSK-F. Project administration: AE. Resources: AE, KMA, WSK-F. Supervision: WSK-F. Writing—original draft: AE. Writing—review and editing: AE, KMA, MMH, CMAR-A, WSK-F.

Corresponding author

Correspondence to Wilhelmina S. Kerstjens-Frederikse.

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Competing interests

The authors declare no competing interests.

Ethics approval and consent to participate

The study design for Sanger sequencing was discussed with the accredited Medical Ethics Review Committee of the University Medical Centre Groningen. The committee waived full ethical evaluation. All the patients in this clinical cohort consented to use of residual material and data.

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Engwerda, A., Abbott, K.M., Hitzert, M.M. et al. The role of TBX18 in congenital heart defects in humans not confirmed. Eur J Hum Genet 31, 138–141 (2023).

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