Q. Liu, X.F. Qi, F. Ye, J. Yao and J. Xu
Published January 22, 2013
Genet. Mol. Res. 12 (1): 53-58 (2013)
DOI http://dx.doi.org/10.4238/2013.January.22.3

About the authors
Q. Liu, X.F. Qi, F. Ye, J. Yao and J. Xu

Corresponding author
J. Xu
E-mail: drxujing@126.com

ABSTRACT

To find the underlying cause of noncompaction of the ventricular myocardium (NVM), three Chinese families with probands who presented this problem were studied. After the family members were evaluated by echocardiography, the gene G4.5 (taffazin) was scanned by sequencing. Although X-linked inheritance could not be ruled out, NVM were thought to have a vague rule of inheritance in our data from 8 patients and 28 family members. We also did not identify any mutations in G4.5 in all samples. Our data suggest that other genes are responsible for the familial form of this disease.

Key words: Noncompaction of the ventricular myocardium; G4.5; Mutations