Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.

Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in development and differentiation. Here, we report on a SAM domain mutation (p.

TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly.

Mutations in TBX22 are known causes of cleft palate with/without ankyloglossia. We identified a hemizygous missense c.452G>T (p.