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...

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Bibliographic Details
Published in:The Cleft palate-craniofacial journal 2010-09, Vol.47 (5), p.544-547
Main Authors: Paranaíba, Lívia Máris Ribeiro, Martelli-Júnior, Hercílio, De Miranda, Roseli Teixeira, Bufalino, Andréia, Filho, Ruy Camargo Abdo, Coletta, Ricardo D.
Format: Article
Language:English
Subjects:
Adolescent
Arginine - genetics
Biological and medical sciences
Birth defects
Cleft Lip - genetics
Cleft Palate - genetics
Codon - genetics
Congenital diseases
Cytosine
Deformities
Dentistry
Dermatology
Ectodermal Dysplasia - genetics
Exons - genetics
Female
Foot Deformities, Congenital - genetics
Genotype
Genotype & phenotype
Hair and nails disorders
Hand Deformities, Congenital - genetics
Heterozygote
Humans
Medical sciences
Melanosis - pathology
Mutation, Missense - genetics
Otorhinolaryngology. Stomatology
Phenotype
Sequence Analysis, Protein
Skin involvement in other diseases. Miscellaneous. General aspects
Studies
Thymine
Transcription Factors - genetics
Tryptophan - genetics
Tumor Suppressor Proteins - genetics
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Summary: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.
ISSN:1055-6656
1545-1569
DOI:10.1597/09-063