[Mutation analysis of Cited2 in patients with congenital heart disease].
OBJECTIVE
To explore mutation of Cited2 gene coding strand in Chinese patients with congenital heart disease (CHD).


METHODS
DNA was extracted from the blood samples of 120 nonhomologous and various CHD patients and 100 healthy children. The sequence of coding regions of Cited2 was amplified by PCR and compared to those in the GeneBank after sequencing to identify the mutations. The family of the samples who have Cited2 mutations were investigated as well. Clustal W software was applied for conservative analysis of the altered amino acids.


RESULTS
Three new mutations of Cited2 coding strand were found in 4 CHD patients. Two point mutations were first identified respectively in two patients, one patient with mirror image dextrocardia and tetralogy of Fallot (c.550 G > A), another with aortic stenosis (c.574 A > G). Apart from this, the same deletion (c.573-578del6) was first detected in another two patients, one with ventricular septal defect and atrial septal defect, the other with aortic stenosis and pulmonary stenosis. All the mutations resulted in the protein changes (p.Gly184Ser; p.Ser192Gly; p.Ser192fs). None of these changes were detected in the control group.


CONCLUSIONS
This study showed that there are 3 brand-new gene mutations as demonstrated by sequencing of Cited2 gene in Chinese CHD patients with a broad phenotype spectrum. Serine-glycine rich junction (SGJ) is considered as the mutation hot spot. Cited2 mutations may be one of the causes of the development of CHD in human.
Yang
Xiao-fei
XF
Department of Cardiovascular Center, Children's Hospital of Chongqing Medical University, Chongqing 400014, China.
Wu
Xiao-yun
XY
Li
Mi
M
Li
Yong-gang
YG
Dai
Jiang-tao
JT
Bai
Yong-hong
YH
Tian
Jie
J
D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*
C486381:CITED2 protein, human; D012097:Repressor Proteins; D015534:Trans-Activators