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Mutations in the TP63 gene cause EEC3 and Rapp-Hodgkin syndromes. Clinical presentation varies greatly, even within families, highlighting the need for molecular diagnostics to confirm diagnoses.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • The TP63 gene encodes a p53-like transcription factor crucial for development.
  • Mutations in TP63 are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) and Rapp-Hodgkin syndrome (RHS).

Observation:

  • A 37-year-old mother and her 3-year-old daughter presented with a previously reported c.1028G>A (p.Arg343Gln) mutation in TP63 exon 8.
  • The mother exhibited features consistent with RHS, lacking ectrodactyly.
  • The daughter displayed major features of EEC3 syndrome, including ectrodactyly, ectodermal dysplasia, clefting, and additional minor features.

Findings:

  • The study demonstrates significant clinical variability in TP63-related syndromes, even within the same family.
  • The same TP63 mutation (c.1028G>A) resulted in distinct clinical phenotypes (RHS in the mother, EEC3 in the daughter).
  • Variable expressivity and incomplete penetrance complicate clinical diagnosis based solely on observable features.

Implications:

  • Clinical assignment of EEC3 and EEC-like syndromes can be challenging due to overlapping features and variable expressivity.
  • Molecular diagnostics are essential for accurate diagnosis when multiple TP63-related syndromes are clinically plausible.
  • Understanding TP63 mutation variability is key for precise genetic counseling and patient management.