A novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs. (5th November 2014)

• Record Type: Journal Article
• Authors: Xiao, Jianmin; Kang, Guanyang; Wang, Jing; Li, Tengyan; Chen, Jiuhao; Wang, Jieyin; Li, Wei; Wang, Binbin
• Is Part Of: Cardiology in the young. Volume 25:Number 7(2015)
• Page Start: 1263
• Page End: 1267
• Publication Date: 2014-11-05
• Subjects: Pediatric cardiology -- Periodicals; 618.9212
• DOI: 10.1017/S1047951114002170
• Languages: English
• ISSNs: 1047-9511

Abstract

<abstract abstract-type="normal"> <title>Abstract</title> <sec id="abs1" sec-type="general"> <title>Background</title> <p>The <italic>GDF3</italic> gene plays a fundamental role in embryonic morphogenesis. Recent studies have indicated that <italic>GDF3</italic> plays a previously unrecognised role in cardiovascular system development. Non-syndromic CHDs might be a clinically isolated manifestation of <italic>GDF3</italic> mutations. The purpose of the present study was to identify potential pathological mutations in the <italic>GDF3</italic> gene in Chinese children with non-syndromic CHDs, and to gain insight into the aetiology of non-syndromic CHDs.</p> </sec> <sec id="abs2" sec-type="methods"> <title>Methods</title> <p>A total of 200 non-syndromic CHDs patients and 202 normal control patients were sampled. There were two exons of the human <italic>GDF3</italic> gene amplified using polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced.</p> </sec> <sec id="abs3" sec-type="results"> <title>Results</title> <p>One missense mutation (c.C635T, p.Ser212 Leu, phenotype: isolated muscular ventricular septal defect) was found that has not been reported previously.</p> </sec> <sec id="abs4" sec-type="conclusions"> <title>Conclusions</title> <p>To the best of our knowledge, this is the first study to investigate the role of the <italic>GDF3</italic> gene in non-syndromic CHDs. Our results expand the spectrum of mutations associated with CHDs and first suggest the potentially disease-related <italic>GDF3</italic> gene variant in the pathogenesis of CHDs.</p> </sec> </abstract>