[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.


CONCLUSIONS
The above mentioned mutations of CSX/NKX(2.5) gene identified in a Chinese family may be one of the secundum ASD etiologic causes.
Tian
Li
L
Institute of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Zhu
Jian-Fang
JF
Yang
Jun-Guo
JG
Zhu
Qi-Hui
QH
Du
Rong
R
Li
Jing
J
Li
Wei
W
D001483:Base Sequence; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors / Q000235:genetics*
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors; D004247:DNA