Author/Authors :
Ebrahimzadeh-Vesal، Reza Ebrahimzadeh-VesalReza نويسنده Department of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595 , , Hosseini، Seyed kianush نويسنده Tehran Heart Center, Medical Sciences, University of Tehran, Iran , , Rezakhanlu، Fereshteh نويسنده Tehran Heart Center, Medical Sciences, University of Tehran, Iran , , Derakhshandeh-Peykar، Pupak نويسنده Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595. ,
Abstract :
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, V205V) in exon 7 of the TBX5 gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.
