Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63

Authors

  • Juan Carlos Zenteno,

    Corresponding author
    1. Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico
    • Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Vasco de Quiroga 15, Col. Secc. XVI, Tlalpan 14000, Mexico DF, Mexico.
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  • Valeria Berdón-Zapata,

    1. Department of Genetics, Hospital General de Mexico-Faculty of Medicine, UNAM, Mexico City, Mexico
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  • Susana Kofman-Alfaro,

    1. Department of Genetics, Hospital General de Mexico-Faculty of Medicine, UNAM, Mexico City, Mexico
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  • Osvaldo M. Mutchinick

    1. Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico
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Abstract

We report a Mexican boy with isolated ectrodactyly (split hand malformation) in whom a new mutation was identified in exon 3 of the TP63 gene. In contrast to previously reported patients with isolated split hand/foot anomaly and mutations in the DNA binding domain of Tp63, the mutation described herein induce an amino acid substitution (R97C) in the canonical transactivation (TA) domain. To our knowledge, this is the first naturally occurring mutation described so far in this part of the protein. Based on the genotype–phenotype correlation observed in our patient, we hypothesize that integrity of the TA domain of Tp63 is critical for normal limb development. © 2005 Wiley-Liss, Inc.

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