Publication: DPF2-related Coffin-Siris syndrome type 7 in two generations
DPF2-related Coffin-Siris syndrome type 7 in two generations
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Kolokotronis, K., Suter, A.-A., Ivanovski, I., Frey, T., Bahr, A., Rauch, A., & Steindl, K. (2024). DPF2-related Coffin-Siris syndrome type 7 in two generations. European Journal of Medical Genetics, 69, 104945. https://doi.org/10.1016/j.ejmg.2024.104945
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To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/PHD2 domains of DPF2.
Here we report on the first familial case of Coffin-Siris syndrome type 7. The index patient presented at the age of 1 year with failure to thrive and ectodermal anomalies. The genetic analysis using whole exome sequencing showed a likely pathogenic missense variant in the PHD1
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Kolokotronis, K., Suter, A.-A., Ivanovski, I., Frey, T., Bahr, A., Rauch, A., & Steindl, K. (2024). DPF2-related Coffin-Siris syndrome type 7 in two generations. European Journal of Medical Genetics, 69, 104945. https://doi.org/10.1016/j.ejmg.2024.104945
