Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Authors

  • Antonio Pizzuti,

    Corresponding author
    1. Dipartimento di Medicina Sperimentale e Patologia, Università di Roma “La Sapienza,” Rome, Italy
    2. Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Istituto Mendel Rome, Italy
    • Istituto C.S.S.-Mendel, Viale Regina Margherita 261, 00198, Rome, Italy
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  • Anna Sarkozy,

    1. Dipartimento di Medicina Sperimentale e Patologia, Università di Roma “La Sapienza,” Rome, Italy
    2. Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Istituto Mendel Rome, Italy
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  • Anthea L. Newton,

    1. School of Molecular and Microbial Biosciences, University of Sydney, Australia
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  • Emanuela Conti,

    1. Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Istituto Mendel Rome, Italy
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  • Elisabetta Flex,

    1. Dipartimento di Medicina Sperimentale e Patologia, Università di Roma “La Sapienza,” Rome, Italy
    2. Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Istituto Mendel Rome, Italy
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  • Maria Cristina Digilio,

    1. Ospedale Pediatrico Bambino Gesù, Rome, Italy
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  • Francesca Amati,

    1. Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma “Tor Vergata,” Rome, Italy
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  • Debora Gianni,

    1. Dipartimento di Medicina Sperimentale e Patologia, Università di Roma “La Sapienza,” Rome, Italy
    2. Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Istituto Mendel Rome, Italy
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  • Caterina Tandoi,

    1. Dipartimento di Medicina Sperimentale e Patologia, Università di Roma “La Sapienza,” Rome, Italy
    2. Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Istituto Mendel Rome, Italy
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  • Bruno Marino,

    1. Dipartimento di Pediatria, Università di Roma “La Sapienza,” Rome, Italy
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  • Merlin Crossley,

    1. School of Molecular and Microbial Biosciences, University of Sydney, Australia
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  • Bruno Dallapiccola

    1. Dipartimento di Medicina Sperimentale e Patologia, Università di Roma “La Sapienza,” Rome, Italy
    2. Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo, Istituto Mendel Rome, Italy
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  • Communicated by Arnold Munnich

Abstract

Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been found to exhibit TOF. While both mutant ZFPM2/FOG2 proteins, E30G (c.88A>G) and S657G (c.1968A>G), retain the ability to bind the partner protein GATA4 and repress GATA4 mediated gene activation, the S657G, but not the E30G, mutation is subtly impaired in this function. ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF. Hum Mutat 22:372–377, 2003. © 2003 Wiley-Liss, Inc.

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