Document Detail

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome.
MedLine Citation:
PMID:  17495353     Owner:  NLM     Status:  MEDLINE    
Familial hypertrophic cardiomyopathy (HCM) displays autosomal dominant inheritance with incomplete penetration of defective genes. Data concerning the familial occurrence of ventricular preexcitation, i.e. Wolff-Parkinson-White (WPW) syndrome, also indicate autosomal dominant inheritance. In the literature, only a gene mutation on chromosome 7q3 has been described in familial HCM coexisting with WPW syndrome to date. The present paper describes the case of a 7-year-old boy with HCM and coexisting WPW syndrome. On his chromosome 14, molecular diagnostics revealed a C 9123 mutation (arginine changed into cysteine in position 453) in exon 14 in a copy of the gene for beta-myosin heavy chain (MYH7). It is the first known case of mutation of the MYH7 gene in a child with both HCM and WPW. Since no linkage between MYH7 mutation and HCM with WPW syndrome has been reported to date, we cannot conclude whether the observed mutation is a common cause for both diseases, or this patient presents an incidental co-occurrence of HCM (caused by MYH7 mutation) and WPW syndrome.
Waldemar Bobkowski; Małgorzata Sobieszczańska; Anna Turska-Kmieć; Agnieszka Nowak; Józef Jagielski; Marzena Gonerska; Arleta Lebioda; Aldona Siwińska
Related Documents :
17369503 - The original lujan syndrome family has a novel missense mutation (p.n1007s) in the med1...
19927903 - Genetic evaluation and management of fetal chylothorax: review and insights from a case...
9745103 - Outcome of two pregnancies in a patient with gitelman's syndrome-a case report.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of applied genetics     Volume:  48     ISSN:  1234-1983     ISO Abbreviation:  J. Appl. Genet.     Publication Date:  2007  
Date Detail:
Created Date:  2007-05-14     Completed Date:  2007-08-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9514582     Medline TA:  J Appl Genet     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  185-8     Citation Subset:  IM    
Department of Paediatric Cardiology, University of Medical Sciences, Szpitalna 27/33, 60-572 Poznań, and Department of Cardiology, Children's Memorial Health Institute, Warszawa, Poland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Cardiac Myosins / genetics*
Cardiomyopathy, Hypertrophic, Familial / complications*,  genetics*,  physiopathology
Genes, Dominant
Myosin Heavy Chains / genetics*
Wolff-Parkinson-White Syndrome / complications*,  genetics*,  physiopathology
Reg. No./Substance:
0/MYH7 protein, human; 0/Myosin Heavy Chains; EC 3.6.1.-/Cardiac Myosins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  P53 mutations in urinary bladder cancer patients from Central Poland.
Next Document:  The retinoid induced pancreatic cancer redifferentiation-apoptosis sequence and the mitochondria: a ...