مشخصات کلی Screening mutations in myosin binding protein C3 gene in a cohort of patients with hypertrophic cardiomyopathy

نویسنده کتاب (Author):

Rodríguez García, María Isabel; Monserrat Iglesias, Lorenzo; Ortiz, Martín; Fernández, Xusto; Cazón, Laura; Núñez, Lucía; Barriales-Villa, Roberto; Maneiro, Emilia; Veira, Elena; Castro-Beiras, Alfonso; Hermida-Prieto, Manuel

انتشارات (Publisher):

BioMed Central 2010

ویرایش و نوع فایل (Edition/Format):

 Downloadable article : English

منبع (Database):

WorldCat

عنوان ژورنال (Publication):

rodriguez-garcia-mi-monserrat-l-ortiz-m-et-al-screening-mutations-in-myosin-binding-protein-c3-gene-in-a-cohort-of-patients-with-hypertrophic-cardiomyopathy-bmc-med-genet-internet

توضیحات خلاصه (Summary):

[Abstract] Background. MyBPC3 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. Methods. Screening 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. Results. 16 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]. Conclusions. Mutations 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.  Read more…

ژانر / فرم:info:eu-repo/semantics/article

موضوع:Internet resource

نوع منبع:Internet Resource, Article

تمام نویسندگان / همکاران: Rodríguez García, María Isabel; Monserrat Iglesias, Lorenzo; Ortiz, Martín; Fernández, Xusto; Cazón, Laura; Núñez, Lucía; Barriales-Villa, Roberto; Maneiro, Emilia; Veira, Elena; Castro-Beiras, Alfonso; Hermida-Prieto, Manuel

شناسه OCLC:979265305

Language Note:English

فهرست محتوا:1471-2350 http://hdl.handle.net/2183/17694

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