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

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

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2007
• Tom: 48
• Numer: 2
• Strony: 185-188
• Opis fizyczny: p.185-188,fig.,ref.

Twórcy

autor

Bobkowski W

• Department of Paediatric Cardiology, University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland

autor

Sobieszczanska M

• Department of Pathophysiology, Wrocław Medical University, Wrocław, Poland

autor

Turska-Kmiec A

• Department of Cardiology, Children's Memorial Health Institute, Warszawa, Poland

autor

Nowak A

• Department of Paediatric Cardiology, University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland

autor

Jagielski J

• Department of Pathophysiology, Wrocław Medical University, Wrocław, Poland

autor

Gonerska M

• Department of Pathophysiology, Wrocław Medical University, Wrocław, Poland

autor

Lebioda A

• Molecular Techniques Unit, Department of Forensic Medicine, Wrocław Medical University, Wrocław, Poland

autor

Siwinska A

• Department of Paediatric Cardiology, University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland

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