Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

BMC Medical Genetics

Research Article

Lorenzo Monserrat¹  María Isabel Rodríguez-García¹  Alfonso Castro-Beiras¹  Lucía Núñez²  Elena Veira²  Roberto Barriales-Villa²  Emilia Maneiro²  Xusto Fernández²  Manuel Hermida-Prieto²  Martín Ortiz²  Laura Cazón² 

[1] Hospital Universitario de A Coruña-Servicio Galego de Saúde (SERGAS), Instituto de Ciencias de la Salud, As Xubias s/n, 15006, A Coruña, Spain;Instituto de Investigación Biomédica de la Universidad de A Coruña (INIBIC), Instituto de Ciencias de la Salud, As Xubias s/n, 15006, A Coruña, Spain;Instituto de Investigación Biomédica de la Universidad de A Coruña (INIBIC), Instituto de Ciencias de la Salud, As Xubias s/n, 15006, A Coruña, Spain;

关键词: Sudden Cardiac Death;    Hypertrophic Cardiomyopathy;    Index Case;    Sort Intolerant From Tolerant;    E542Q Mutation;   

DOI  :  10.1186/1471-2350-11-67

 received in 2009-11-02, accepted in 2010-04-30,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundMyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease expression. Our objectives were to establish the prevalence of MyBPC3 mutations and determine their associated clinical characteristics in our patients.MethodsScreening by Single Strand Conformation Polymorphisms (SSCP) and sequencing of the fragments with abnormal motility of the MyBPC3 gene in 130 unrelated consecutive HCM index cases. Genotype-Phenotype correlation studies were done in positive families.Results16 mutations were found in 20 index cases (15%): 5 novel [D75N, V471E, Q327fs, IVS6+5G>A (homozygous), and IVS11-9G>A] and 11 previously described [A216T, R495W, R502Q (2 families), E542Q (3 families), T957S, R1022P (2 families), E1179K, K504del, K600fs, P955fs and IVS29+5G>A]. Maximum wall thickness and age at time of diagnosis were similar to patients with MYH7 mutations [25(7) vs. 27(8), p = 0.16], [46(16) vs. 44(19), p = 0.9].ConclusionsMutations in MyBPC3 are present in 15% of our hypertrophic cardiomyopathy families. Severe hypertrophy and early expression are compatible with the presence of MyBPC3 mutations. The genetic diagnosis not only allows avoiding clinical follow up of non carriers but it opens new possibilities that includes: to take preventive clinical decisions in mutation carriers than have not developed the disease yet, the establishment of genotype-phenotype relationship, and to establish a genetic diagnosis routine in patients with familial HCM.

【 授权许可】

Unknown   
© Rodríguez-García et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.