A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect.
OBJECTIVE
Ventricular septal defect (VSD) is the most common congenital heart disease (CHD). A number of genetic studies have linked the gene of PLAGL1 to the etiology of CHD. The present study aimed to identify potential pathogenic mutations for PLAGL1 and to provide insights into the etiology of isolated VSD.


METHODS
Case-control mutational analysis was performed in 300 patients with isolated VSD and 300 healthy controls. Two protein-coding extons of PLAGL1 and their partial flanking intron sequences were amplified by polymerase chain reaction and sequenced on an ABI3730 Automated Sequencer. CLC workbench software was used to compare the conservatism of PLAGL1 protein with other multiple species.


RESULTS
Neither missense nor frame-shift mutations were detected in two protein-coding extons of PLAGL1. But a novel synonymous variation (c.486A>G, p. E162E) was detected in protein-coding exon-2. The glutamic that translated with the mutational codon is conservative when compared with other species.


CONCLUSIONS
We detected a synonymous variation in the protein-coding exon-2 of PLAGL1 in isolated VSD patients. It is possible that the etiology of isolated VSD might not be directly linked with this mutation, but might be associated with other patterns of gene expression regulation in PLAGL1, such as in the methylation-dependent manner.
TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China.
Chao
C
Xuan
Bin-Bin
BB
Wang
Ge
G
Gao
Xiao-Yan
XY
Bai
Qin
Q
Yang
Xiao-Cheng
XC
Liu
Wen-Bin
WB
Jing
Xu
X
Ma
Guo-Wei
GW
He
D001483:Base Sequence; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D002681:China; D017931:DNA Primers; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; D017931:DNA Primers; C106464:PLAGL1 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins