A novel variation ofGDF3in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs

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Abstract
Background: TheGDF3gene plays a fundamental role in embryonic morphogenesis. Recent studies have indicated thatGDF3plays a previously unrecognised role in cardiovascular system development. Non-syndromic CHDs might be a clinically isolated manifestation ofGDF3mutations. The purpose of the present study was to identify potential pathological mutations in theGDF3gene in Chinese children with non-syndromic CHDs, and to gain insight into the aetiology of non-syndromic CHDs.Methods: A total of 200 non-syndromic CHDs patients and 202 normal control patients were sampled. There were two exons of the humanGDF3gene amplified using polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced.Results: One missense mutation (c.C635T, p.Ser212 Leu, phenotype: isolated muscular ventricular septal defect) was found that has not been reported previously.Conclusions: To the best of our knowledge, this is the first study to investigate the role of theGDF3gene in non-syndromic CHDs. Our results expand the spectrum of mutations associated with CHDs and first suggest the potentially disease-relatedGDF3gene variant in the pathogenesis of CHDs.

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