title: p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly.
abstract: Ectrodactyly is a congenital limb malformation that involves a central reduction defect of the hands and/or feet which is frequently associated with other phenotypic abnormalities. The condition appears to be genetically heterogeneous and recently it has been demonstrated that mutations in the p63 gene, a homologue of the tumor suppressor gene p53, are the cause of at least four autosomal dominant genetic syndromes which feature ectrodactyly: ectrodactyly, ectodermal dysplasia, and facial clefting (EEC), split hand/split foot malformation (SHFM), limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth syndrome (ADULT). In this study, genetic analysis of the p63 gene in a group of 13 patients with ectrodactyly (syndromic and isolated) was performed. Four patients with syndromic ectrodactyly had p63 heterozygous point mutations that affect the DNA binding domain of the protein. One of these subjects exhibited the typical features of EEC syndrome as well as ankyloblepharon being, to our knowledge, the first case combining these traits. This finding supports the view of a clinical overlap in this group of autosomal dominant syndromes caused by p63 mutations and demonstrates that there are exceptions in the previously established p63 genotype-phenotype correlation.
authors.affiliation: Department of Genetics, Facultad de Medicina-UNAM, Hospital General de México, Dr. Balmis 148, Col. Doctores, CP 06726, Mexico City, Mexico.
authors.forename: V
authors.initials: V
authors.lastname: Berdón-Zapata
authors.forename: M
authors.initials: M
authors.lastname: Granillo-Alvarez
authors.forename: M
authors.initials: M
authors.lastname: Valdés-Flores
authors.forename: J E
authors.initials: JE
authors.lastname: García-Ortiz
authors.forename: S
authors.initials: S
authors.lastname: Kofman-Alfaro
authors.forename: J C
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D005838:Genotype; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008800:Mexico; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D014034:Toes / Q000002:abnormalities; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins