[Gene mutation in secundum atrial septal defect: analysis of a Chinese family with 3 patients].

OBJECTIVE

To study the gene mutations of homeobox transcription factor (CSX/NKX(2.5)) associated with a Chinese family with secundum atrial septal defect (ASD).

METHODS

Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD, including 3 ASD patients and 10 non-patients, with the proband from Hunan province; and single strand conformation polymorphism analysis was used to check 126 normal control people for detecting the mutations of CSX/NKX(2.5) gene.

RESULTS

Three heterozygous mutation [G270A (Glu32Lys), G378A (Glu68Lys) and G390A (Glu72Lys)] were identified in the CSX/NKX(2.5) gene of the ASD patients. However, the other members in the family with ASD patients and the controls did not have such gene mutations.

CONCLUSION

The above mentioned mutations of CSX/NKX(2.5) gene identified in a Chinese family may be one of the secundum ASD etiologic causes.