Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome.
Taiwan J Obstet GynecolSep 1, 2026
Case ReportMedical Genetics
Yung-Chen Chien, Ping-Lun Lin, Yu-Chio Wang et al.
✦ AI-curated · Sources linked
Case in brief
A 34-year-old male with EEC syndrome was found to have a heterozygous TP63 c.925A > G variant through whole-exome sequencing. A proband-independent preimplantation genetic testing for monogenic disorders (PGT-M) workflow was developed, combining direct mutation detection with haplotype analysis. Out of 17 blastocysts from IVF cycles, 6 were low-risk for the variant, and one euploid embryo was transferred, resulting in a healthy infant.
Diagnostic / clinical pearl
This case illustrates the successful application of a proband-independent PGT-M strategy for managing de novo TP63 mutations in EEC syndrome.