p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly

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 g...

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Bibliographic Details
Published in:Journal of orthopaedic research 2004, Vol.22 (1), p.1-5
Main Authors: Berdón-Zapata, V, Granillo-Álvarez, M, Valdés-Flores, M, Garcı́a-Ortiz, J.E, Kofman-Alfaro, S, Zenteno, J.C
Format: Article
Language:English
Subjects:
Adult
Child
DNA Mutational Analysis
DNA-Binding Proteins
Ectrodactyly
EEC syndrome
Female
Fingers - abnormalities
Foot Deformities, Congenital - genetics
Genes, Tumor Suppressor
Genotype
Hand Deformities, Congenital - genetics
Humans
Limb malformation
Male
Mexico
p63 gene
Phenotype
Phosphoproteins - genetics
Toes - abnormalities
Trans-Activators - genetics
Transcription Factors
Tumor Suppressor Proteins
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Summary: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.
ISSN:0736-0266
1554-527X
DOI:10.1016/S0736-0266(03)00166-9