Ectrodactyly -
ectodermal dysplasia and
cleft lip/palate (
EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of
EEC syndrome are associated to mutations in the
DNA binding domain (DBD) region of the p63
protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by
EEC syndrome, determined by a novel mutation c.1037C > G (p.Ala346Gly). The disorder in this family exhibits a broad spectrum of phenotypes: two individuals were personally examined, one presenting the complete constellation of
EEC syndrome manifestations and the other presenting an intermediate phenotype; the third affected, a deceased individual not examined personally and referred to by his daughter, exhibited only the split-hand/foot malformation (SHFM). Our findings contribute to elucidate the complex phenotype-genotype correlations in
EEC syndrome and other related TP63-mutation syndromes. The possibility of the mutation c.1037C > G being related both to acro-dermato-ungual-lacrimal-tooth (
ADULT) syndrome and SHFM is also raised by the findings here reported.