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Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
Cleft Palate Craniofac J. 2010 Sep; 47(5):544-7.CP

Abstract

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.

Authors+Show Affiliations

Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, São Paulo, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

20180707

Citation

Paranaíba, Lívia Máris Ribeiro, et al. "Ectrodactyly-ectodermal Dysplasia-clefting Syndrome Associated With P63 Mutation and an Uncommon Phenotype." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 47, no. 5, 2010, pp. 544-7.
Paranaíba LM, Martelli-Júnior H, de Miranda RT, et al. Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype. Cleft Palate Craniofac J. 2010;47(5):544-7.
Paranaíba, L. M., Martelli-Júnior, H., de Miranda, R. T., Bufalino, A., Abdo Filho, R. C., & Coletta, R. D. (2010). Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 47(5), 544-7. https://doi.org/10.1597/09-063
Paranaíba LM, et al. Ectrodactyly-ectodermal Dysplasia-clefting Syndrome Associated With P63 Mutation and an Uncommon Phenotype. Cleft Palate Craniofac J. 2010;47(5):544-7. PubMed PMID: 20180707.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype. AU - Paranaíba,Lívia Máris Ribeiro, AU - Martelli-Júnior,Hercílio, AU - de Miranda,Roseli Teixeira, AU - Bufalino,Andréia, AU - Abdo Filho,Ruy Camargo, AU - Coletta,Ricardo D, PY - 2010/2/26/entrez PY - 2010/2/26/pubmed PY - 2014/4/25/medline SP - 544 EP - 7 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac J VL - 47 IS - 5 N2 - 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. SN - 1545-1569 UR - https://www.unboundmedicine.com/medline/citation/20180707/Ectrodactyly_ectodermal_dysplasia_clefting_syndrome_associated_with_p63_mutation_and_an_uncommon_phenotype_ L2 - https://journals.sagepub.com/doi/10.1597/09-063?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -