Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome

• Autorzy: W. Bobkowski , M. Sobieszczanska , A. Turska-Kmiec , A. Nowak , J. Jagielski , M. Gonerska , A. Lebioda , A. Siwinska
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

ARRHYTHMIA; BETA-MYOSIN; HYPERTROPHIC CARDIOMYOPATHY; MUTATION; MYH7 GENE; WOLFF-PARKINSON-WHITE SYNDROME

• Czasopismo: Journal of Applied Genetics
• Rocznik: 2007
• Tom: 48
• Numer: 2
• Strony: 185-188

Twórcy

autor

W. Bobkowski

autor

M. Sobieszczanska

autor

A. Turska-Kmiec

autor

A. Nowak

autor

J. Jagielski

autor

M. Gonerska

autor

A. Lebioda

autor

A. Siwinska

• Typ dokumentu: ARTICLE
• Bibliografia: W. Bobkowski, Department of Paediatric Cardiology, Poznan University of Medical Sciences, Szpitalna 27/33, 60?572 Poznan, Poland