TY - JOUR T1 - A genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report TT - JF - rbmb JO - rbmb VL - 2 IS - 1 UR - http://rbmb.net/article-1-42-en.html Y1 - 2013 SP - 52 EP - 55 KW - Congenital heart malformation KW - Holt-Oram syndrome KW - TBX5 gene N2 - 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. M3 ER -