Reza Ebrahimzadeh-Vesal - Department of Medical Genetics, Medical Sciences, University of Tehran, Iran
Seyed kianush Hosseini - Tehran Heart Center, Medical Sciences, University of Tehran, Iran
Fereshteh Rezakhanlu - Tehran Heart Center, Medical Sciences, University of Tehran, Iran
Pupak Derakhshandeh-Peykar - Department of Medical Genetics, Medical Sciences, University of Tehran, Iran - Medizinisch Genetisches Zentrum (MGZ), Munich, Germany

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V۲۰۵V) in exon ۷ of the TBX۵ gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.

Congenital heart malformation, Holt-Oram syndrome, TBX۵ gene