中文摘要：

目的：识别先天性房间隔缺损（ASD）相关GATA6基因新突变。方法：收集110例先天性AsD患者和200名健康对照者的临床资料和血标本，使用DNA纯化试剂盒提取基因组DNA。通过聚合酶链反应扩增GATA6基因的编码外显子和其两侧的部分内含子，应用双脱氧核苷链末端合成终止法进行DNA测序。将所测序列与GenBank数据库中的GATA6基因序列进行比对，识别GATA6基因突变。分别借助在线程序MUSCLE和MutationTaster评估突变氨基酸的保守性和致病性。结果：在1例家族史阴性的先天性ASD患者发现了1种新的GATA6基因杂合错义突变，即P．Q363E突变，突变率约为0．91％。该突变不存在于200名健康对照者，多物种序列比对显示，被改变氨基酸在进化上高度保守，致病性预测表明这种变异为致病性突变。结论：发现ASD相关GATA6基因新突变，有助于揭示ASD新的分子机制。

英文摘要：

Objective： To identify the novel GATA6 mutation associated with congenital atrial septal defect （ASD）. Methods：A cohort of 110 unrelated patients with congenital ASD and a total of 200 unrelated healthy individuals as controls were enrolled. Clinical data were collected and peripheral venous blood samples were prepared. Genomic DNA was extracted with DNA extraction kit. The coding exons and their flanking introns of the GATA6 gene were amplified by polymerase chain reaction and the amplicons were sequenced with di-deoxynucleotide chain termination technique. The obtained sequences were aligned with those of GATA6 released from GenBank to identify the sequence variations. The online programs of MUSCL and MutationTaster were used to determine whether the altered amino acid was conserved evolutionarily and whether the mutation was pathogenic, respectively. Results： One novel heterozygous GATA6 mutation, p. Q363E, was identified in an ASD patient, with a mutational prevalence of roughly 0. 91~. This mutation, which altered the amino acid highly conserved evoIutionarily, was absent in the 200 control persons and was predicted to be disease-causing. Conclusion：This study associates a novel GATA6 mutation with congenital ASD, helping to unveil new molecular mechanism implicated in the pathogenesis of congenital ASD.