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A novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs

Published online by Cambridge University Press:  05 November 2014

Jianmin Xiao ,
Guanyang Kang ,
Jing Wang ,
Tengyan Li ,
Jiuhao Chen ,
Jieyin Wang ,
Wei Li  and
Binbin Wang
Jianmin Xiao
Affiliation:
Department of Cardiology, The Dongguan Affiliated Hospital of Medical College of Jinan University, The Fifth People’s Hospital of Dongguan, Guangdong, China
Guanyang Kang
Affiliation:
Department of Cardiology, The Dongguan Affiliated Hospital of Medical College of Jinan University, The Fifth People’s Hospital of Dongguan, Guangdong, China Medical College of Shantou University, Guangdong, China
Jing Wang
Affiliation:
Center for Genetics, National Research Institute for Family Planning, Beijing, China Department of Medical Genetics, School of Basic Medical Sciences, Capital Medical University, BeijingChina
Tengyan Li
Affiliation:
Center for Genetics, National Research Institute for Family Planning, Beijing, China
Jiuhao Chen
Affiliation:
Department of Pediatrics, The Dongguan Affiliated Hospital of Medical College of Jinan University, The Fifth People’s Hospital of Dongguan, Guangdong, China
Jieyin Wang
Affiliation:
Department of Cardiology, The Dongguan Affiliated Hospital of Medical College of Jinan University, The Fifth People’s Hospital of Dongguan, Guangdong, China
Wei Li
Affiliation:
Department of Pediatrics, The Dongguan Affiliated Hospital of Medical College of Jinan University, The Fifth People’s Hospital of Dongguan, Guangdong, China
Binbin Wang*
Affiliation:
Center for Genetics, National Research Institute for Family Planning, Beijing, China
*
Correspondence to: B. Wang, Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, China. Tel: +86 106 217 6870; Fax:+86 106 217 9086; E-mail: [email protected]
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Abstract

Background

The GDF3 gene plays a fundamental role in embryonic morphogenesis. Recent studies have indicated that GDF3 plays a previously unrecognised role in cardiovascular system development. Non-syndromic CHDs might be a clinically isolated manifestation of GDF3 mutations. The purpose of the present study was to identify potential pathological mutations in the GDF3 gene 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 human GDF3 gene 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 the GDF3 gene in non-syndromic CHDs. Our results expand the spectrum of mutations associated with CHDs and first suggest the potentially disease-related GDF3 gene variant in the pathogenesis of CHDs.

Keywords

CHDsGDF3mutationventricular septal defect
Type
Original Articles
Information
Cardiology in the Young , Volume 25 , Issue 7 , October 2015 , pp. 1263 - 1267
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Copyright
© Cambridge University Press 2014 

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Footnotes

†

These two authors equally contributed to this work.

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