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

✍ Scribed by Antonio Pizzuti; Anna Sarkozy; Anthea L. Newton; Emanuela Conti; Elisabetta Flex; Maria Cristina Digilio; Francesca Amati; Debora Gianni; Caterina Tandoi; Bruno Marino; Merlin Crossley; Bruno Dallapiccola

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
177 KB
Volume
22
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Arnold Munnich

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.

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FIGURE 3. The E30S and S657G mutations do not signiΒ’cantly impair binding to the partner protein GATA4. A: GST pull-down assay showing retention of wild-type ZFPM2/FOG2, the E30S and S657G mutants by GATA4 N-Β’nger. Input lanes show that equivalent amounts of wild-type and mutant ZFPM2/FOG2 proteins

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