p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly
| Autor: | J. C. Zenteno, V. Berdón-Zapata, Susana Kofman-Alfaro, M. Granillo-Álvarez, José Elías García-Ortiz, M. Valdés-Flores |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Ectodermal dysplasia Ectrodactyly Foot Deformities Congenital Genotype Tumor suppressor gene DNA Mutational Analysis Ankyloblepharon Biology Genetic analysis Fingers medicine Humans Genes Tumor Suppressor Orthopedics and Sports Medicine Child Mexico Gene Genetics Genetic heterogeneity Tumor Suppressor Proteins Point mutation Toes Phosphoproteins medicine.disease DNA-Binding Proteins stomatognathic diseases Phenotype Trans-Activators Female Hand Deformities Congenital Transcription Factors |
| Zdroj: | Journal of Orthopaedic Research. 22:1-5 |
| ISSN: | 1554-527X 0736-0266 |
| DOI: | 10.1016/s0736-0266(03)00166-9 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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