Cancer-related Molecular Pathways
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This case supports the feasibility of a proband-independent PGT-M strategy for de novo TP63-related EEC syndrome and describes a proband-independent PGT-M workflow for a de novo TP63 variant.
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OBJECTIVE: Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disorder caused by TP63 variants. De novo mutations challenge preimplantation genetic testing for monogenic disorders (PGT-M) when informative relatives are unavailable. This report describes a proband-independent PGT-M workflow for a de novo TP63 variant. CASE REPORT: Whole-exome sequencing identified a heterozygous TP63 c.925A > G variant in a 34-year-old male with EEC features, with germline transmission confirmed in sperm DNA. A customized PGT-M workflow combined direct mutation detection with short tandem repeat-based haplotype analysis using informative markers closely linked to TP63. Embryos from three IVF cycles underwent combined PGT-M and preimplantation genetic testing for aneuploidy (PGT-A). Among 17 blastocysts, 6 were low-risk for the TP63 variant, and 2 were euploid. Transfer of one euploid, low-risk embryo resulted in a healthy infant without the pathogenic variant. CONCLUSION: This case supports the feasibility of a proband-independent PGT-M strategy for de novo TP63-related EEC syndrome.
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@article{Chien2026Successful,
title = {Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome},
author = {Yung-Chen Chien and Ping-Lun Lin and Yu-Chio Wang and Jung-Hsiu Hou and Chi‐Huang Chen},
journal = {Taiwanese Journal of Obstetrics and Gynecology},
year = {2026},
doi = {10.1016/j.tjog.2026.04.018},
url = {https://doi.org/10.1016/j.tjog.2026.04.018}
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