A genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report

Reza Ebrahimzadeh-Vesal, Seyed Kianush Hosseini, Fereshteh Rezakhanlu, Pupak Derakhshandeh-Peykar
2013 Reports of Biochemistry & Molecular Biology   unpublished
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.