alexa A Novel Mutation in BMPR2 in Patients with Congenital H
ISSN: 2155-9880

Journal of Clinical & Experimental Cardiology
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Research Article

A Novel Mutation in BMPR2 in Patients with Congenital Heart Disease and Pulmonary Arterial Hypertension

Meili Wei1, Bo Han1*, Fengqin Liu1, Laicheng Wang2 and Jin Sun1
1Division of Cardiology, Department of Pediatrics, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, PR China
2Central Laboratory of Shandong Provincial Hospital, Jinan, Shandong, PR China
Corresponding Author : Bo Han
Division of Cardiology, Department of Pediatrics
Provincial Hospital Affiliated to Shandong University
Jinan, Shandong, PR China
Tel: +86-531-85187889
E-mail: [email protected]
Received: January 18, 2012; Accepted: February 27, 2012; Published: February 29, 2012
Citation: Wei M, Han B, Liu F, Wang L, Sun J (2012) A Novel Mutation in BMPR2 in Patients with Congenital Heart Disease and Pulmonary Arterial Hypertension. J Clinic Experiment Cardiol 3:181. doi:10.4172/2155-9880.1000181
Copyright: © 2012 Wei M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Background: Pulmonary arterial hypertension (PAH) is caused by intensive remodeling of small pulmonary arteries. The main pathological characteristic is proliferation of endothelial and smooth muscle cells. PAH is clinically characterized by a sustained increase in pulmonary arterial pressure, right-sided heart failure and death. Genetic studies in patients of familial PAH (FPAH), idiopathic pulmonary arterial hypertension (IPAH) and congenital heart disease with pulmonary arterial hypertension (CHD/PAH) have identified heterozygous mutations in the bone morphogenetic protein type receptor II ( BMPR2 ) gene. To date, only six distinct missense mutations have been identified in patients with CHD/ PAH.

Methods: The protein-coding region and intron/exon boundaries of the BMPR2 gene were amplified by PCR using DNA samples from 80 Chinese Han patients with CHD/PAH and 80 matched controls. Direct sequencing of PCR products was conducted on both the sense and antisense strands. Mutations were excluded if present in a panel of chromosomes from 80 normal individuals.

Results: A novel missense mutation, a G-to-A transition at position 1042 in exon 8, which encodes a Val348Ile mutation, of the BMPR2 gene, was identified in a female pediatric patient with atrioventricular septal defect/anterior mitral valve cleft/pulmonary arterial hypertension (AVSD/ AMVC/PAH). A single nucleotide polymorphisms (SNP), c. 2811G>A, in the BMPR2 gene was identified in nine patients and ten controls. However, no significant difference was found in the frequency distribution of the SNP between patients with CHD/PAH and controls.

Conclusions: We identified a novel missense mutation occurring at a valine located in the kinase domain of BMPR2 . The Val348Ile mutation may be responsible for the development of CHD/PAH.

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