Objective: To determine if alteration in TP63 is responsible for a Chinese patient with ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, but without cleft palate/lip.
Methods: Screening of TP63 gene was performed in the patient with EEC syndrome and his family members using PCR-single strand conformational polymorphism (SSCP) analysis, then performed by direct sequencing of the coding region.
Results: A C > T substitution at nucleotide position 838 in exon 7 was detected in the patient, and the change predicted a heterozygous missense mutation, Arg280Cys. His parents showed the wild type.
Conclusions: The results indicate that the de novo mutation Arg280Cys of the TP63 gene observed in the patient maybe contribute to his EEC syndrome.