Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome.

doi:10.1016/j.tjog.2026.04.018

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Article

Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome.

Taiwanese journal of obstetrics & gynecology - 1 Sept 2026

Chien Yung-Chen, Lin Ping-Lun, Wang Yu-Chio, Hou Jung-Hsiu, Chen Chi-Huang

Abstract excerpt

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...

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Identifiers

PMID: 42642160
DOI: 10.1016/j.tjog.2026.04.018

Genes

TP63

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.