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

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

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

Author(s) -

Pizzuti Antonio,

Sarkozy Anna,

Newton Anthea L.,

Conti Emanuela,

Flex Elisabetta,

Cristina Digilio Maria,

Amati Francesca,

Gianni Debora,

Tandoi Caterina,

Marino Bruno,

Crossley Merlin,

Dallapiccola Bruno

Publication year - 2003

Publication title -

human mutation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.981

H-Index - 162

eISSN - 1098-1004

pISSN - 1059-7794

DOI - 10.1002/humu.10261

Subject(s) - biology , tetralogy of fallot , missense mutation , gene , genetics , mutant , gata4 , mutation , microbiology and biotechnology , gene expression , medicine , heart disease

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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