[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.