Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27-29 located p63 gene. In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. Scattered freckles on face, legs, and abdominal region, an uncommon feature associated with this syndrome, were recognized in our patient. The clinical features and genotype-phenotype correlation with previous p63 mutations related to the syndrome are discussed and compared with those observed in our patient. This case expands the phenotypic spectrum of ectrodactyly-ectodermal dysplasia-clefting syndrome.
Paranaíba
Lívia Máris Ribeiro
LM
Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, São Paulo, Brazil.
Martelli-Júnior
Hercílio
H
de Miranda
Roseli Teixeira
RT
Bufalino
Andréia
A
Abdo Filho
Ruy Camargo
RC
Coletta
Ricardo D
RD
D000293:Adolescent; D001120:Arginine / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003596:Cytosine; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D005838:Genotype; D006228:Hand Deformities, Congenital / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008548:Melanosis / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D020539:Sequence Analysis, Protein; D013941:Thymine; D014157:Transcription Factors / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D003062:Codon; C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D014364:Tryptophan; D003596:Cytosine; D001120:Arginine; D013941:Thymine