September 24, 2003Human Mutation

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

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Population

47 patients with sporadic tetralogy of Fallot (TOF)

Design

Cross-sectional

Authors

Discussion

Supports ZFPM2 variants in sporadic TOF pathogenesis; hypothesis-generating and should not yet alter clinical genetic testing.

Population

47 patients with sporadic tetralogy of Fallot (TOF)

Outcome

Presence of ZFPM2/FOG2 gene mutations and their functional impact on GATA4 binding and gene activation repressionsurrogate

Mutations in the ZFPM2/FOG2 gene may contribute to the pathogenesis of some sporadic cases of tetralogy of Fallot.

Pizzuti et al. (2003) studied this question.

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