Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
2003; Wiley; Volume: 22; Issue: 5 Linguagem: Inglês
10.1002/humu.10261
ISSN1098-1004
AutoresAntonio Pizzuti, Anna Sárközy, Anthea Newton, Emanuela Conti, Elisabetta Flex, M. Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino, Merlin Crossley, Bruno Dallapiccola,
Tópico(s)Cardiac Valve Diseases and Treatments
ResumoTwo 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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